J. Spranger

P. Beighton, H. Wainwright, P. Okiro, 2015, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

The Stickler syndrome (hereditary arthroophthalmopathy).

J. Opitz, T. France, J. Spranger, 1975, Birth defects original article series.

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

D. Horn, S. Mundlos, M. Spielmann, 2015, Journal of Medical Genetics.

Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development

A. Poznanski, P. Brill, J. Spranger, 2012 .

Congenital bowing of the long bones

J. Spranger, B. Hall, 1980, European Journal of Pediatrics.

[The campomelic syndrome].

J. Opitz, P. Maroteaux, J. Spranger, 1971, La Presse medicale.

Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism

D. Horn, J. Spranger, J. Kunze, 2001, Journal of medical genetics.

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.

D. Horn, A. Ekici, F. Rüschendorf, 2005, American journal of human genetics.

An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature.

S. Mundlos, B. Zabel, K. Becker, 1996, American journal of medical genetics.

Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan

G. Weißenbacher, J. Spranger, R. Krepler, 1974, Zeitschrift für Kinderheilkunde.

The lethal osteochondrodysplasias.

J. Spranger, P. Maroteaux, J. Spranger, 1990, Advances in human genetics.

Campomelic Dysplasia: Further Elucidation of a Distinct Entity

J. Spranger, B. Hall, 1980 .

Familial congenital bowing with short bones.

J. Spranger, B. Hall, 1979, Radiology.

Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease.

R. Stevenson, A. Srivastava, J. Spranger, 2000, American journal of medical genetics.

Schimke immunoosseous dysplasia: defining skeletal features

C. Boerkoel, D. Bonneau, S. Smithson, 2009, European Journal of Pediatrics.

Prenatal mucolipidosis type II (I‐cell disease) can present as Pacman dysplasia

R. Saul, V. Proud, J. Leroy, 2005, American journal of medical genetics. Part A.

Autosomal dominant inheritance of spondyloenchondrodysplasia

A. Chan, J. Spranger, R. Bhargava, 2005, American journal of medical genetics. Part A.

Hyperostosis in siblings.

E. Lausch, J. Spranger, 2016, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

Increasing frequency of a syndrome of multiple osseous defects?

P. Maroteaux, L. Langer, J. Spranger, 1970, Lancet.

Thanatophoric dwarfism. A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia.

L. Langer, J. Spranger, R. Herdman, 1969, Radiology.

Errors of morphogenesis: concepts and terms. Recommendations of an international working group.

J. Opitz, K. Benirschke, J. Hall, 1982, The Journal of pediatrics.

Vitamin K deficiency embryopathy: a phenocopy of the warfarin embryopathy due to a disorder of embryonic vitamin K metabolism.

A. Lin, H. Toriello, G. Bernert, 1997, American journal of medical genetics.

Heterogeneity of Chondrodysplasia punctata

J. Opitz, J. Spranger, U. Bidder, 2004, Humangenetik.

[Exomphalos-makroglossy-gigantism-syndrome, gneralized muscular hypertrophy, progressive lipodystrophy and Miescher's syndrome--congenital diencephalic syndromes?].

J. Drescher, H. Wiedemann, J. Spranger, 1968, Zeitschrift fur Kinderheilkunde.

Cryptophthalmos ‐ syndactyly syndrome without cryptophthalmos

J. Spranger, R. Koenig, 1986, Clinical genetics.

Mucolipidosis I: increased sialic acid content and deficiency of an alpha-N-acetylneuraminidase in cultured fibroblasts.

J. Spranger, M. Cantz, J. Gehler, 1977, Biochemical and biophysical research communications.

Mucopolysaccharidosis II (Hunter disease) with corneal opacities

I. Liebaers, W. Theiss, J. Spranger, 1978, European Journal of Pediatrics.

Morphological aspects of the Mucopolysaccharidoses

J. Spranger, 1975 .

Heterogeneity of Morquio disease

M. Beck, M. Beck, J. Glössl, 1986, Clinical genetics.

Advances in Human Genetics

J. Ellison, J. Crow, H. Reisner, 1983, Advances in Human Genetics.

The Genetic Mucolipidoses1

H. Wiedemann, J. Spranger, 1970 .

Pigmentary mosaicism in hypomelanosis of Ito

H. Rehder, A. Naumova, K. Ørstavik, 1998, Human Genetics.

Prune belly syndrome and urethral obstruction.

J. Spranger, É. Straub, 1980, The Journal of pediatrics.

Cerebroarthrodigital syndrome: a newly recognized formal genesis syndrome in three patients with apparent arthromyodysplasia and sacral agenesis, brain malformation and digital hypoplasia.

J. Opitz, A. Schinzel, J. Ryan, 1980, American journal of medical genetics.

Grebe chondrodysplasia and similar forms of severe short-limbed dwarfism.

J. Opitz, D. Rimoin, J. Zonana, 1977, Birth defects original article series.

Developmental terms—some proposals: First report of an International working group

J. Opitz, K. Benirschke, R. Lowry, 1979 .

Etiology and Pathogenesis of the Prune Belly Syndrome

J. Spranger, É. Straub, 1983 .

Lysosomal sialidase deficiency: increased ganglioside content in autopsy tissues of a sialidosis patient.

J. Spranger, M. Cantz, B. Ulrich-Bott, 1987, Enzyme.

Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia.

S. Mundlos, A. Winterpacht, B. Zabel, 1994, Human Molecular Genetics.

Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of zellweger: Comparative pathology

J. Opitz, K. Gilchrist, E. Gilbert, 1976, European Journal of Pediatrics.

Chondrodysplasia punctata — Rhizomelic form

J. Opitz, E. Gilbert, L. Langer, 1976, European Journal of Pediatrics.

I-cell disease.

J. Spranger, J. Leroy, 2020, The New England journal of medicine.

Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect.

A. Winterpacht, B. Zabel, J. Spranger, 1997, American journal of medical genetics.

The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.

A. Winterpacht, B. Zabel, A. Superti-Furga, 1996, Journal of medical genetics.

Spondyloepiphyseal dysplasia congenita

Y. Glick, L. Langer, J. Spranger, 2020, Definitions.

Classification of Skeletal Dysplasias

J. Spranger, 1991, Acta paediatrica Scandinavica. Supplement.

Mucopolysaccharidosis. VII. Beta-glucuronidase deficiency.

J. Spranger, M. Cantz, M. Tolksdorf, 1974, Humangenetik.

A new type of autosomal recessive spondyloepiphyseal dysplasia tarda

L. Messiaen, B. Leroy, J. Leroy, 2004, American journal of medical genetics. Part A.

Progressive pseudorheumatoid arthritis of childhood (PPAC)

C. Bartsocas, J. Spranger, F. Schilling, 1983, European Journal of Pediatrics.

Progressive pseudorheumatoid arthropathy of childhood (PPAC): a hereditary disorder simulating juvenile rheumatoid arthritis.

C. Bartsocas, J. Spranger, F. Schilling, 1983, American journal of medical genetics.

Ischiospinal dysostosis with rib gaps and nephroblastomatosis.

K. Clarkson, J. Spranger, S. Self, 2001, Clinical dysmorphology.

[Aarskog syndrome (author's transl)].

J. Spranger, J. Kunze, 1973, Klinische Padiatrie.

[Comparative ultrastructural investigations of livers in mucopolysaccharidoses and mucolipidoses (author's transl)].

J. Spranger, S. Blümcke, F. Freitag, 1971, Verhandlungen der Deutschen Gesellschaft fur Pathologie.

The pallister mosaic syndrome.

J. Opitz, U. Francke, L. Meisner, 1977, Birth defects original article series.

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.

Gunnar Houge, Stefan Johansson, Martin S. Taylor, 2014, American journal of human genetics.

Mucopolysaccharidosis VI (Maroteaux-Lamy's disease).

V. McKusick, H. Wiedemann, J. Spranger, 1970, Helvetica paediatrica acta.

Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.

L. Sangiorgi, L. Boccone, B. Zabel, 2008, American journal of human genetics.

An autosomal dominant syndrome of short stature with mesomelic shortness of limbs, abnormal carpal and tarsal bones, hypoplastic middle phalanges, and bipartite calcanei.

J. Opitz, J. Spranger, W. Osebold, 1985, American journal of medical genetics.

Constitutional Disorders of Skeletal Development: The Skeletal Dysplasias

J. Spranger, 1978 .

[Vater or Vacterl syndrome (author's transl)].

J. Spranger, W. Baumann, P. Emmrich, 1976, Klinische Padiatrie.

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

A. Janecke, M. Bros, C. Hübner, 2011, Nature Genetics.

Further delineation of the 3-M syndrome with review of the literature.

R. Hennekam, J. B. Bijlsma, J. Spranger, 1987, American journal of medical genetics.

TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome.

H. Farin, A. Kispert, B. Zabel, 2008, American journal of human genetics.

Reply to Dr. Flannery

J. Opitz, J. Spranger, 1989 .

A new familial intrauterine growth retardation syndrome the “3-M syndrome”

J. Opitz, J. Spranger, A. Nourmand, 1976, European Journal of Pediatrics.

Brain Tumours and Genetics

J. Spranger, 1982 .

Asphyxiating Thoracic Dysplasia (Mim 208500)

A. Superti-Furga, G. Nishimura, S. Unger, 2012 .

Teratogenicity of vitamin-A analogs

J. Spranger, 2004, European Journal of Pediatrics.

The radiographic features of mannosidosis.

J. Spranger, M. Cantz, J. Gehler, 1976, Radiology.

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

G. Pazour, M. Schmidts, A. Bloch-Zupan, 2019, JCI insight.

Mannosidosis: clinical and biochemical findings.

J. O'brien, J. Spranger, M. Cantz, 1975, Birth defects original article series.

Comprehensive urinary screening for inborn errors of complex carbohydrate metabolism

A. Sewell, J. Spranger, J. Gehler, 1979, Klinische Wochenschrift.

Pattern recognition in bone dysplasias.

J. Spranger, 1985, Progress in clinical and biological research.

Skeletal complications in osteogenesis imperfecta. A review of 153 South African patients.

P. Beighton, J. Spranger, G. Versveld, 1983, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

Heterogeneity of metatropic dysplasia

M. Beck, J. Rogers, J. Spranger, 1983, European Journal of Pediatrics.

Two peculiar types of enchondromatosis

J. Opitz, J. Spranger, H. Kemperdieck, 1978, Pediatric Radiology.

Metaphyseal chondrodysplasias.

J. Spranger, 1976, Birth defects original article series.

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

D. Sillence, S. Robertson, A. Mégarbané, 2010, American journal of medical genetics. Part A.

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

G. Mortier, A. Zankl, B. Zabel, 2007, European Journal of Human Genetics.

Beyond osteogenesis imperfecta: Causes of fractures during infancy and childhood

R. Stevenson, J. Spranger, Lucas M. Bronicki, 2015, American journal of medical genetics. Part C, Seminars in medical genetics.

Fetal Radiology: A Diagnostic Atlas

R. Schumacher, L. Seaver, J. Spranger, 2013 .

Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.

L. Vissers, J. Veltman, H. Brunner, 2011, American journal of human genetics.

Recommendations of an International Working Group

J. Opitz, K. Benirschke, J. Spranger, 1982 .

The development pathology of collagen in humans.

J. Spranger, 1987, Birth defects original article series.

[Cartilage-hair hypoplasia].

H. Wiedemann, J. Spranger, W. Kosenow, 1967, Archiv fur Kinderheilkunde.

A common pathomechanism in GMAP-210– and LBR-related diseases

A. Köttgen, M. Lowe, T. Witkos, 2018, JCI insight.

Weyers acrodental dysostosis in a family

J. Spranger, Martin Roubicek, 1984, Clinical genetics.

Adducted thumb-club foot syndrome in sibs of a consanguineous

J. Spranger, J. Kunze, E. Rupprecht, 2001 .

MAINZ CONGENITAL BIRTH DEFECT MONITORING SYSTEM

Annette Queiber-Luft, J. Spranger, G. Hauck, 1994, Pediatric Research.

Inborn errors of complex carbohydrate metabolism.

J. Spranger, 1987, American journal of medical genetics.

I-Cell disease, mucolipidosis II

J. Opitz, E. Gilbert, G. Dawson, 1973, Zeitschrift für Kinderheilkunde.

Geleophysic dwarfism--a "focal" mucopolysaccharidosis?

J. Opitz, E. Gilbert, J. Spranger, 1971, Lancet.

Chondrodysplasia punctata, tibia-metacarpal (MT) type.

J. Spranger, M. Rittler, H. Menger, 1990, American journal of medical genetics.

Clinical and ultrastructural findings in three patients with geleophysic dysplasia.

F. Henschke, A. Karbowski, B. Pontz, 1996, American journal of medical genetics.

Acrofacial dysplasia resembling geleophysic dysplasia.

M. Burdelski, E. Gilbert, H. Kallfelz, 1984, American journal of medical genetics.

[Early skeletal changes in mucolipidosis III].

K. Nolte, J. Spranger, 1976, Annales de radiologie.

EEG in Mucolipidosis I

H. Doose, M. Warner, J. Spranger, 1975 .

Wolcott-Rallison syndrome: Diabetes mellitus and spondyloepiphyseal dysplasia

B. Pontz, H. Pesch, J. Spranger, 1982, European Journal of Pediatrics.

Heterogeneity of Dyggve-Melchior-Clausen dwarfism

J. Spranger, J. Herrmann, B. Bierbaum, 1976, Human Genetics.

[Hereditary arthro-ophthalmopathy].

J. Spranger, 1968, Annales de radiologie.

Clinicopathological conference: an adolescent girl with severe mental impairment and mucopolysacchariduria.

J. Opitz, L. Langer, M. Haust, 1985, American journal of medical genetics.

The clinical spectrum of a-L-iduronidase deficiency

J. Opitz, J. F. Reynolds, J. Spranger, 1985 .

Congenital generalized lipodystrophy, mental retardation, deafness, short stature, and slender bones: A newly recognized syndrome?

A. Rajab, S. Spranger, J. Spranger, 2003, American journal of medical genetics. Part A.

CHONDROITINSULPHATURIA WITH α-L-IDURONIDASE DEFICIENCY

J. Spranger, M. Cantz, J. Gehler, 1974 .

Osteogenesis imperfecta congenita

P. Beighton, B. Cremin, J. Spranger, 2005, Pediatric Radiology.

N-Acetylneuraminic acid storage disease

H. Friebolin, W. Baumann, J. Spranger, 2004, Human Genetics.

Heterozygous C‐propeptide mutations in COL1A1: Osteogenesis imperfecta type IIC and dense bone variant

Yukichi Tanaka, G. Nishimura, Y. Chinen, 2011, American journal of medical genetics. Part A.

Osteogenesis imperfecta: a pasture for splitters and lumpers.

J. Spranger, 1984, American journal of medical genetics.

Syndrome of polydactyly, conical teeth and nail dysplasia.

J. Spranger, M. Roubicek, 1985, American journal of medical genetics.

Hypochondroplasia: clinical and radiological aspects in 39 cases.

J. Spranger, B. Hall, 1979, Radiology.

[Dysosteosclerosis--a special form of generalized osteosclerosis].

H. Wiedemann, J. Spranger, C. Albrecht, 1968, Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin.

Abstracts of meeting presentations (Part 3 of 11)

A. Chapelle, J. Opitz, N. Morton, 1979 .

Die kraniometaphysäre Dysplasie (Pyle)

J. Spranger, W. Lehmann, K. Paulsen, 1965, Zeitschrift für Kinderheilkunde.

Maroteaux-Lamy disease (mucopolysaccharidosis VI), subtype A: deficiency of a N-acetylgalactosamine-4-sulfatase.

J. O'brien, J. Spranger, M. Cantz, 1974, Biochemical and biophysical research communications.

Catabolic disorders of complex carbohydrates.

J. Spranger, 1977, Postgraduate medical journal.

STUDYING THE MUCOPOLYSACCHARIDOSES

H. Wiedemann, J. Spranger, 1967 .

DYSPLASIA SPONDYLOEPIPHYSARIA CONGENITA

H. Wiedemann, J. Spranger, 1966 .

Urinary oligosaccharide screening in patients with β-galactosidase deficiency

A. Sewell, J. Spranger, J. Gehler, 1980, European Journal of Pediatrics.

Beta galactosidase and the Morquio syndrome.

J. Spranger, 1977, American journal of medical genetics.

The clinical spectrum of alpha-L-iduronidase deficiency.

J. Spranger, M. Roubicek, J. Gehler, 1985, American journal of medical genetics.

Prenatal diagnosis of mucolipidosis II (I-cell disease)

J. Spranger, M. Cantz, J. Gehler, 1976, European Journal of Pediatrics.

Heterogeneity in Osteogenesis Imperfecta: Clinical and Morphological Findings

B. Pontz, J. Spranger, H. Stöss, 1988, Annals of the New York Academy of Sciences.

Lipomucopolysaccharidosis--a second look.

H. Wiedemann, J. Spranger, 1969, Lancet.

Spondyloepiphyseal dysplasia.

L. Langer, J. Spranger, 1974, Birth defects original article series.

The epiphyseal dysplasias.

J. Spranger, 1976, Clinical orthopaedics and related research.

Spondyloepiphyseal dysplasias.

J. Spranger, 1975, Birth defects original article series.

Recessive omodysplasia: five new cases and review of the literature

A. Wilkie, K. Gustavson, J. Spranger, 2004, Pediatric Radiology.

Mucolipidosis I, the cherry red-spot--myoclonus syndrome and neuraminidase deficiency.

J. Spranger, M. Cantz, 1978, Birth defects original article series.

Omenn phenotype with short-limbed dwarfism.

T. Stallmach, F. Zepp, J. Spranger, 1991, The Journal of pediatrics.

The skull in achondroplasia.

J. Spranger, 1988, Basic life sciences.

Previously undescribed syndrome of spondylometaphyseal dysplasia, osteocartilaginous metaplasia of long bones, and progressive osteolysis of distal phalanges

J. Opitz, A. Poznanski, K. Unni, 1998 .

An unusual bone dysplasia: parastremmatic dwarfism.

L. Langer, J. Spranger, D. Petersen, 1970, The American journal of roentgenology, radium therapy, and nuclear medicine.

Heterogeneity of nonlethal severe short-limbed dwarfism.

J. Opitz, D. Rimoin, J. Zonana, 1977, The Journal of pediatrics.

Severe short-limb dwarfism resembling Grebe chondrodysplasia

J. Opitz, S. Al‐Awadi, A. Teebi, 1986, Human Genetics.

Grebe Dysplasia And The Spectrum Of CDMP1 Mutations

A. Winterpacht, B. Zabel, J. Spranger, 2003, Pediatric pathology & molecular medicine.

Dose‐response studies with benzo[a]pyrene

E. Wynder, J. Spranger, M. Fark, 1960 .

Difficulties in the classification of the epiphyseal dysplasias.

D. Rimoin, J. Hall, C. Scott, 1975, Birth defects original article series.

Congenital anomalies in children of epileptic mothers and fathers.

J. Spranger, A. Steveling, A. Lukas, 1980, Neuropediatrics.

Severe neonatal dwarfism resembling the Kniest and Rolland types of chondrodysplasia.

J. Remy, P. Maroteaux, J. Spranger, 1977, Acta paediatrica Belgica.

A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation.

D. Horn, K. Rosendahl, D. Fitzpatrick, 2015, European journal of medical genetics.

Bone dysplasia 'families'.

J. Spranger, 1988, Pathology and immunopathology research.

H. Warren, S. Skinner, R. Louie, 2018, Clinical case reports.

[Congenital alpha-cell deficiency as cause of a chronic infantile hypoglycemia?].

J. Spranger, T. Wagner, H. Brunck, 1969, Monatsschrift fur Kinderheilkunde.

Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia

H. Fendel, E. Boltshauser, A. Superti-Furga, 1997, European Journal of Pediatrics.

Developmental terms—Some proposals

J. Spranger, 1979, European Journal of Pediatrics.

Sponastrime dysplasia. A radiologic-pathologic correlation.

R. Lachman, J. Spranger, H. Stoss, 1989, Pediatric radiology.

Micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification: another observation.

P. Meinecke, P. Maroteaux, J. Spranger, 1989, American journal of medical genetics.

Environmental aspects in pediatrics

M. Otto, J. Spranger, K. Mühlendahl, 1995, European Journal of Pediatrics.

Neurology of adult alpha-mannosidosis.

P. Vieregge, M. Beck, S. Niemann, 1996, Journal of neurology, neurosurgery, and psychiatry.

New perspectives in the human chondrodysplasias.

V. McKusick, D. Rimoin, W. Horton, 1988, Pathology and immunopathology research.

Mixed-sclerosing-bone-dystrophy (osteopathia striata and osteopetrosis) and Cushing's syndrome.

J. Spranger, 1991, Bone.

Response to Feingold's: The use of inappropriate, demeaning, and perjorative terminology to describe syndromes

R. Saul, V. Proud, J. Leroy, 2006 .

Abstracts of meeting presentations (Part 5 of 11)

A. Chapelle, J. Opitz, N. Morton, 1979 .

"New" dwarfing syndromes.

J. Spranger, 1977, Birth defects original article series.

Quantitation of muscle cells of the ureter.

J. Spranger, 1977 .

A disorder resembling pseudoachondroplasia but without COMP mutation

B. Zabel, J. Spranger, J. Kennedy, 2005, American Journal of Medical Genetics. Part A.

Cerebral spinal fluid flow, venous drainage and spinal cord compression in achondroplastic children: impact of magnetic resonance findings for decompressive surgery at the cranio-cervical junction

P. Stoeter, R. Schumacher, T. Humpl, 2001, European Journal of Pediatrics.

Sibs with a disorder resembling Blount disease (tibia vara)

S. Mundlos, J. Spranger, H. Schmidt, 2005, Pediatric Radiology.

Spondyloenchondrodysplasia.

J. Spranger, K. Kruse, H. Menger, 1989, Journal of medical genetics.

Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity

G. Mortier, S. Mohan, T. Nakashima, 2016, Journal of Medical Genetics.

News for the practitioner

J. Spranger, 1992, European Journal of Pediatrics.

Short rib-polydactyly syndromes and related conditions.

L. Langer, J. Spranger, J. Herrmann, 1974, Birth defects original article series.

Syndromes A, syndromes B, syndromes C

J. Spranger, 2013, American Journal of Medical Genetics. Part A.

Genetic and phenotypic heterogeneity in KIAA0753‐related ciliopathies

D. Doherty, R. Stottmann, K. Weaver, 2021, American journal of medical genetics. Part A.

Microcephalic osteodysplastic dysplasia.

D. Rimoin, R. Lachman, S. Bhatt, 1994, American journal of medical genetics.

Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family.

A. Sewell, J. Spranger, J. Gehler, 1981, Helvetica paediatrica acta.

Pyle's disease (familial metaphyseal dysplasia). A presentation of two cases and argument for its separation from craniometaphyseal dysplasia.

R. Gorlin, J. Spranger, M. F. Koszalka, 1970, The Journal of bone and joint surgery. American volume.

Familial metaphyseal dysplasia?

J. Spranger, 1970, Lancet.

Pigmentary mosaicism in hypomelanosis of Ito. Further evidence for functional disomy of Xp.

H. Rehder, A. Naumova, K. Orstavik, 1998, Human genetics.

Hypomorphic mutations of TRIP11 cause Hypomorphic mutations of TRIP11 cause this you.

G. Pazour, M. Schmidts, A. Bloch-Zupan, 2022 .

International nomenclature and classification of the osteochondrodysplasias (1997)

D. Sillence, I. Kaitila, D. Rimoin, 1998, Pediatric Radiology.

A rare form of spondylometaphyseal dysplasia-type A4.

J. Spranger, J. Troeger, T. Duetting, 1998, American journal of medical genetics.

Sedaghatian congenital lethal metaphyseal chondrodysplasia--observations in a second Iranian family and histopathological studies.

J. Opitz, H. Pesch, J. Spranger, 1987, American journal of medical genetics.

Pro and con the term "anomalad".

J. Spranger, 1978, The Journal of pediatrics.

Spondylo‐epiphyseal dysplasia, Maroteaux type (pseudo‐Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations

A. Mégarbané, T. Cho, S. Ikegawa, 2010, American journal of medical genetics. Part A.

A constitutional disorder of connective tissue suggesting a defect in collagen biosynthesis

Peter Müller, B. Pontz, J. Spranger, 1974, Klinische Wochenschrift.

Über das Syndrom Exomphalos-Makroglossie-Gigantismus, über generalisierte Muskelhypertrophie, progressive Lipodystrophie und Miescher-Syndrom im Sinne diencephaler Syndrome

J. Spranger, J. Drescher, H. Wiedemann, 2004, Zeitschrift für Kinderheilkunde.

Anthropometrische Normdaten im Kindesalter

J. Spranger, J. Henke, A. Ochsenfarth, 2004, Zeitschrift für Kinderheilkunde.

Spondyloepiphyseal Dysplasia Congenita

J. Spranger, J. Densler, 1970 .

Cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers in sibs of both sexes.

J. Spranger, H. Menger, F. M. Müller, 1993, American journal of medical genetics.

Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type

B. Zabel, M. Uhl, L. Neumann, 2003, Pediatric Radiology.

Enchondromatosis revisited: New classification with molecular basis

A. Superti-Furga, G. Nishimura, J. Spranger, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

[A new (brachymelic) type of primordial dwarfism (author's transl)].

F. Majewski, J. Spranger, 1976, Monatsschrift fur Kinderheilkunde.

Aspartylglycosaminuria in an Italian family: Clinical and biochemical characteristics

A. Sewell, J. Spranger, J. Gehler, 1981, Journal of Inherited Metabolic Disease.