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List of works by Ralph S. Lachman

"Baby rattle" pelvis dysplasia

scientific article published in April 2001

"Duplicate calcaneus": a rare developmental defect observed in several skeletal dysplasias

scientific article

A distinct chondrodysplasia resembling Kniest dysplasia: Clinical, roentgenographic, histologic, and ultrastructural findings ⬇️

scientific article published on 01 December 1983

A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia

A distinctive type of metaphyseal chondrodysplasia with characteristic thickening of the distal ulna and radius: possible metaphyseal chondrodysplasia-Rosenberg

scientific article published on 01 May 2003

A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14.

scientific article

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

scientific article

A new autosomal recessive lethal chondrodystrophy with congenital hydrops ⬇️

scientific article published on March 1, 1988

A new form of spondyloperipheral dysplasia with facial dysmorphism, flattened vertebrae, hypoplastic pelvis, brachydactyly and soft tissue syndactyly

scientific article published in January 2001

A new skeletal dysplasia: clinical, radiologic, and pathologic findings

scientific article published in October 1986

A new variant of lethal neonatal short-limbed platyspondylic dwarfism

scientific article published on 01 March 1993

A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay.

scientific article published on 18 June 2012

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis

scientific article published on 16 February 2017

A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691→Arg) in the type II collagen trimer

article

A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan

scientific article published on 24 December 2008

A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).

scientific article published on 22 May 2015

A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia

scientific article published in November 1994

A syndrome of short stature, joint laxity and developmental delay

scientific article published in July 1982

A unique chondrodysplasia secondary to a defect in chondroosseous transformation

scientific article published on January 1, 1977

Abnormalities of the upper extremities on fetal magnetic resonance imaging

scientific article published on 01 November 2011

Achondrogenesis II-hypochondrogenesis: variability versus heterogeneity

scientific article published on June 1986

Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups

scientific article published on January 1988

Achondroplasia with ankylosing spondylitis

scientific article published in September 1988

Achondroplastic dwarfism with generalized periosteal elevation in infancy

scientific article published on 01 January 1975

Acrodysplasia, severe ossification abnormalities with short stature, and fibular hypoplasia

scientific article published in May 1999

Angulated femurs and the skeletal dysplasias: experience of the International Skeletal Dysplasia Registry (1988-2006).

scientific article published in June 2007

Anomalous inferior and superior venae cavae with oculoauriculovertebral defect: Review of Goldenhar complex and malformations of left-right asymmetry ⬇️

scientific article published on January 6, 1998

Arthrography of the hip. A clue to the pathogenesis of the epiphyseal dysplasias

scientific article

Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II.

scientific article

Axial spondylometaphyseal dysplasia with retinitis pigmentosa—a clinical report and diagnostic clues ⬇️

scientific article published on January 31, 2013

Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling

scientific article published in March 2012

Bilateral ulna hypoplasia, club feet, and mental retardation: a new mesomelic syndrome

scientific article

Brachydactyly-short stature-hypertension (Bilginturan) syndrome: Report on two families ⬇️

scientific article published on December 19, 1997

Brachyolmia: radiographic and genetic evidence of heterogeneity

scientific article published on June 1989

Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families

scientific article published in March 2003

CT of the temporal bone in achondroplasia

scientific article published in November 1988

Calcospherite (calcification nodule) size in the short rib polydactyly syndromes

scientific article published in September 1990

Case report 655: Congenital glenoid dysplasia (congenital hypoplasia of the glenoid neck and fossa of the scapula, with accompanied deformity of humeral head, coracoid process, and acromion)

scientific article published on 01 January 1991

Case report 744. Deferoxamine-induced skeletal dysplasia

scientific article published on January 1, 1992

Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome

scientific article published on April 2002

Chondrodysplasia punctata in an infant with duplication 16p due to a 7;16 translocation

scientific article published in July 1985

Chondroosseous histopathology in adenosine deaminase deficient combined immunodeficiency disease

scientific article published on 01 January 1976

Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.

scientific article published on 30 May 2016

Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update

scientific article published on January 1, 1992

Congenital macular colobomas and short-limb skeletal dysplasia

scientific article published on 01 January 1980

Craniodiaphyseal dysplasia

scientific article published in January 1975

Cumming Syndrome: report of two additional cases ⬇️

scientific article published on October 1, 1998

DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): a new patient and delineation of neurologic variability among recessive cases

scientific article published in September 1993

Desbuquois dysplasia, a reevaluation with abnormal and ?normal? hands: Radiographic manifestations

scientific article published on 01 January 2004

Desbuquois syndrome: clinical, radiographic, and morphologic characterization

scientific article published on 01 August 1994

Diagnosis of skeletal dysplasias in second trimester fetuses

scientific article published on January 1, 1975

Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1

scientific article published on 01 October 2007

Diastrophic dwarfism

scientific article published on 01 January 1976

Diastrophic dysplasia: the death of a variant

scientific article published in July 1981

Differentiating campomelic dysplasia from Cumming syndrome

scientific article published on 01 May 2005

Difficulties in the classification of the epiphyseal dysplasias

scientific article published on 01 January 1975

Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred ⬇️

scientific article published on August 6, 1998

Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25

scientific article

Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005]

scientific article

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum

scientific article

Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type

scientific article

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita ⬇️

scientific article published on November 22, 2001

Dysosteosclerosis

scientific article published on 01 January 1975

Dyssegmental dysplasias: clinical, radiographic, and morphologic evidence of heterogeneity

scientific article

Early‐onset osteoarthritis in Ehlers–Danlos syndrome type VIII ⬇️

scientific article published on March 14, 2012

Epidemiology of osteochondrodysplasias: changing trends due to advances in prenatal diagnosis

scientific article published in January 1996

Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis

scientific article published on 01 August 2008

Exome sequencing identifies PDE4D mutations in acrodysostosis

scientific article published on 29 March 2012

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

scientific article published on 25 October 2017

Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia

scientific article published in December 1994

Extra pelvic ossification centers in thanatophoric dysplasia and platyspondylic lethal skeletal dysplasia-San Diego type ⬇️

scientific article published on October 1, 1998

FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry

scientific article published on 5 August 2014

Familial frontal dysplasia

scientific article published on January 1, 1975

Familial hypophosphatemic rickets with resolution in childhood

scientific article published on January 1, 1975

Fetal akinesia/hypokinesia sequence: prenatal diagnosis and intra-familial variability

scientific article published on 01 November 1993

Fibrochondrogenesis: radiologic and histologic studies

scientific article

Further heterogeneity within lethal neonatal short-limbed dwarfism: The platyspondylic types ⬇️

scientific article published on May 1, 1979

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

scientific article

Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea

scientific article published on 01 August 1990

Genetic skeletal dysplasia in Thailand: the Siriraj experience.

scientific article published in January 1995

Gracile bone dysplasia

scientific article published in January 1998

Grebe chondrodysplasia and similar forms of severe short-limbed dwarfism

scientific article published on January 1, 1977

Guidelines for the prenatal diagnosis of fetal skeletal dysplasias

scientific article

Hand involvement in Schmid metaphyseal chondrodysplasia

scientific article published on 01 January 2005

Hearing loss and temporal bone structure in achondroplasia

scientific article published in March 1993

Heterogeneity in the campomelic syndromes. Long-and short-bone varieties

scientific article published on September 1976

Heterogeneity in the campomelic syndromes: long and short bone varieties

scientific article published on 01 January 1976

Heterogeneity of nonlethal severe short-limbed dwarfism

scientific article published on December 1, 1977

Hip arthrography in the epiphyseal dysplasias.

scientific article published in January 1974

Histologic studies in the chondrodystrophies

scientific article published in January 1974

Human long bone development in vivo: analysis of the distal femoral epimetaphysis on MR images of fetuses.

scientific article published on 07 February 2013

Humeroradial ankylosis associated with other congenital defects (the "boomerang arm" sign)

scientific article published on January 1, 1975

Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder

scientific article

IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome

scientific journal article

International classification of osteochondrodysplasias. International Working Group on Constitutional Diseases of Bone

scientific article

Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: case report and review of triplications and their possible mechanism

scientific article

Intrauterine diagnosis of triploidy: the use of radiologic and ultrasonographic techniques in conjunction with amniocentesis

scientific article published on January 1, 1978

Lacrimo-auriculo-dento-digital (LADD) syndrome

scientific article

Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome)

scientific article published on 01 February 1984

Lethal osteosclerotic osteochondrodysplasia with platyspondyly, metaphyseal widening, and intracellular inclusions in sibs

scientific article published in December 1998

Lethal osteosclerotic skeletal dysplasia with intracellular inclusion bodies

scientific article published on April 1999

Lethal syndrome of skeletal dysplasia and progressive central nervous system degeneration ⬇️

scientific article published on April 28, 1998

Localization of a Multiple Synostoses–Syndrome Disease Gene to Chromosome 17q21-22 ⬇️

scientific article published on July 1, 1998

Long-term outcome in Desbuquois dysplasia: a follow-up in four adult patients

scientific article published in January 2004

Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online

scientific article published in January 1998

MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.

scientific article

MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia

scientific article

Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review

scientific article published on 01 September 2004

Mesomelic shortening of the upper extremities with spur formation and cutaneous dimpling ⬇️

scientific article published on October 1, 1998

Metachondromatosis

scientific article published on 01 January 1974

Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature

scientific article published on January 1988

Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients ⬇️

scientific article published on May 26, 2012

Metatropic dwarfism, the Kniest syndrome and the pseudoachondroplastic dysplasias

scientific article published on January 1, 1976

Microcephalic osteodysplastic dysplasia

scientific article published on July 1994

Microdontia with severe microcephaly and short stature in two brothers: osteodysplastic primordial dwarfism with dental findings

scientific article published on August 1995

Micromelic bone dysplasia with cloverleaf skull

scientific article published in January 1989

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia ⬇️

scientific article published on July 7, 1998

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose.

scientific article published on 04 January 2014

Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia

scientific article published in July 2008

Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype

scientific article published on 01 January 2001

Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature

scientific article published in February 1996

Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type

scientific article published on 7 December 2016

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

scientific journal article

Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.

scientific article published on 10 April 2017

Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia

scientific article published on June 1996

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

scientific article published on 29 February 2004

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia

scientific article

Mutations in two regions of FLNB result in atelosteogenesis I and III.

scientific article published in July 2006

Neonatal dwarfism

scientific article published on August 1, 1978

Nephronophthisis associated with Ellis-van Creveld syndrome ⬇️

scientific article published on January 1, 1998

New epiphyseal stippling syndrome with osteoclastic hyperplasia

scientific article

New form of spondyloepimetaphyseal dysplasia (SEMD) in Jewish family of Iraqi origin

scientific article published on 01 June 1993

New lethal skeletal dysplasia with Dandy-Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies

scientific article published on 01 August 2010

New mesomelic dysplasia with absent fibulae and triangular tibiae.

scientific article published in September 2000

Normal sonographic appearance of a thanatophoric dwarf variant fetus at 13 weeks gestation

scientific article

Nosology and classification of genetic skeletal disorders: 2010 revision.

scientific article

Nosology and classification of genetic skeletal disorders: 2015 revision

scientific article published on 23 September 2015

Occipital encephalocele and MURCS association: case report and review of central nervous system anomalies in MURCS patients

scientific article

Occipital projections in the skeletal dysplasias

scientific article published on 24 April 2004

Odontoid hypoplasia with vertebral cervical subluxation and ventriculomegaly in metatropic dysplasia

scientific article published on 01 February 1989

Omphalocele with absent radial ray (ORR): A case with diploid-triploid mixoploidy ⬇️

scientific article published on January 23, 1998

Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1

scientific article published on 20 June 2014

Osteocraniostenosis-hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology

scientific article

Oto-palato-digital syndrome, type II--an X-linked skeletal dysplasia

scientific article

Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphology

scientific article published on November 2000

Pachydermoperiostosis: an update

scientific article

Pacman dysplasia: Report of two affected sibs ⬇️

scientific article published on May 26, 1998

Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features ⬇️

scientific article (publication date: April 2003)

Pathological fractures in spondyloenchondrodysplasia: case report

scientific article published on 01 February 2000

Perinatal lethal hypophosphatasia; Clinical, radiologic and morphologic findings ⬇️

scientific article published on January 1, 1991

Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations

scientific article published on June 1999

Possible heterogeneity in spondyloenchondrodysplasia: quadriparesis, basal ganglia calcifications, and chondrocyte inclusions

scientific article published on 01 July 1990

Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders

scientific article published on 03 July 2014

Prenatal cortical hyperostosis (Caffey disease)

scientific article published on 01 September 2002

Prenatal diagnosis of asphyxiating thoracic dysplasia

scientific article published in June 1984

Prenatal diagnosis of osteogenesis imperfecta type III

scientific article published on 01 January 1987

Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency

scientific article published on 01 April 1999

Prenatal diagnosis of the skeletal dysplasias

scientific article published in September 1993

Prenatal ultrasound diagnosis of gastric outlet obstruction due to a pyloric web.

scientific article published in January 1995

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

scientific article

Pseudodiastrophic dysplasia: a distinct newborn skeletal dysplasia

scientific article published in October 1986

Quantitative histology of cartilage vascular canals in the human rib. Findings in normal neonates and children and in achondrogenesis II-hypochondrogenesis

scientific article published on December 1990

Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II.

scientific article published in November 1998

Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism

scientific article

Radiological aspects of prenatal-onset cortical hyperostosis [Caffey Dysplasia] ⬇️

scientific article published on July 2, 2011

Radiological features in Brachmann-de Lange syndrome

scientific article published on November 1993

Radiological findings in Hallermann-Streiff syndrome: Report of five cases and a review of the literature ⬇️

scientific article published on December 15, 1991

Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity

scientific article published in January 2012

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity

scientific article published on December 2011

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

scientific article

Scapuloiliac dysostosis (Kosenow syndrome, pelvis-shoulder dysplasia) spectrum: three additional cases

scientific article published in December 2000

Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type

scientific article published on July 2000

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3

scientific article (publication date: 2 July 1999)

Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2.

scientific article published in January 2010

Small deletions in the type II collagen triple helix produce Kniest dysplasia

article

Small deletions in the type II collagen triple helix produce kniest dysplasia

scientific article (publication date: 16 July 1999)

Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia

scientific article published on 17 August 2016

Spectrum of dolichospondylic dysplasia: two new patients with distinctive findings

scientific article

Sponastrime dysplasia. A radiologic-pathologic correlation

scientific article published in January 1989

Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness

scientific article published in July 2005

Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia ⬇️

scientific article published on October 1, 1997

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology

scientific article

Spondylohumerofemoral hypoplasia (giant cell chondrodysplasia): a neonatally lethal short-limbed skeletal displasia

scientific article published on 01 September 1982

Spondylometaphyseal dysplasia, Sedaghatian type

scientific article published on 01 November 1992

Spondylometepiphyseal dysplasia, Strudwick type

scientific article published on 01 November 1982

Structurally Abnormal Type II Collagen in a Severe Form of Kniest Dysplasia Caused by an Exon 24 Skipping Mutation ⬇️

scientific article published on February 20, 1998

Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3

scientific article (publication date: 2001)

Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene ⬇️

scientific article published on May 26, 1998

Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndrome

scientific article published on April 1984

Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region

scientific article published in July 2010

Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome

scientific article published on 20 May 2006

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

scientific article published in March 1995

The Erlenmeyer flask bone deformity in the skeletal dysplasias

scientific article

The Kniest syndrome ⬇️

scientific article published on April 1, 1975

The Pena-Shokeir syndrome: report of five cases and further delineation of the syndrome

scientific article published on October 1983

The Pointer syndrome: a new syndrome with skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties

scientific article published on 01 January 1997

The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type

scientific article

The Winchester syndrome: a nonlysosomal connective tissue disease

scientific article published on 01 May 1974

The Winchester syndrome: clinical, radiographic and pathologic studies

scientific article published on 01 January 1974

The facial-digital-genital (Aarskog) syndrome

scientific article

The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family).

scientific article

The lacrimo-auriculo-dento-digital syndrome

scientific article published on 01 September 1973

The mouse skeletal mutants: models for the human skeletal dysplasias

scientific article published in January 1985

The phenotypic variability of diastrophic dysplasia

scientific article published in October 1978

The radiographic prenatal diagnosis of the generalized bone dysplasias and other skeletal abnormalities

scientific article published in January 1979

The scapula as a window to the diagnosis of skeletal dysplasias.

scientific article published on May 1997

The skeletal dysplasias: clinical-molecular correlations

scientific article

The spondylometaphyseal dysplasias. Clinical, radiologic and pathologic correlation

scientific article published on March 1, 1979

Type C brachydactyly with limited flexion of distal interphalangeal joints

scientific article published on January 1, 1974

Ultrastructural abnormalities in bone and calcifying cartilage in two siblings with a newly described recessive lethal chondrodysplasia

scientific article published in July 1990

Unusual metaphyseal chondrodysplasia with wrist deformities

scientific article published on 01 January 1975

Unusual skeletal anomalies

scientific article published on January 1, 1975

Uruguay facio-cardio-musculo-skeletal syndrome: a novel X-linked recessive disorder

scientific article published on 01 November 2000

van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers

scientific article published in April 2003

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