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Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance.
Clin Genet. 1990 Nov; 38(5):359-61.CG

Abstract

A newborn male, born to Turkish first cousins, presented with severe pre- and postnatal growth retardation. Weight was 800 g at term. Salient clinical features were dwarfism with moderate limb shortening, microcephaly, hirsutism, facial dysmorphism including prominent small cloudy eyes, large nose with high nasal root, retrognathism and low-set ears. Radiologic abnormalities included huge clavicles, dysplastic vertebrae and enlargement of proximal metaphyses with medial spurs.

Authors+Show Affiliations

Department of Medical Genetics, Institut de Morphologie Pathologique, Loverval, Belgium.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2282715

Citation

Van Maldergem, L, et al. "Primordial Osteodysplastic Dwarfism Type I in Association With Corneal Clouding: Evidence for Autosomal Recessive Inheritance." Clinical Genetics, vol. 38, no. 5, 1990, pp. 359-61.
Van Maldergem L, Gillerot Y, Godhaird M, et al. Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance. Clin Genet. 1990;38(5):359-61.
Van Maldergem, L., Gillerot, Y., Godhaird, M., Nemec, E., & Koulischer, L. (1990). Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance. Clinical Genetics, 38(5), 359-61.
Van Maldergem L, et al. Primordial Osteodysplastic Dwarfism Type I in Association With Corneal Clouding: Evidence for Autosomal Recessive Inheritance. Clin Genet. 1990;38(5):359-61. PubMed PMID: 2282715.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance. AU - Van Maldergem,L, AU - Gillerot,Y, AU - Godhaird,M, AU - Nemec,E, AU - Koulischer,L, PY - 1990/11/1/pubmed PY - 1990/11/1/medline PY - 1990/11/1/entrez SP - 359 EP - 61 JF - Clinical genetics JO - Clin. Genet. VL - 38 IS - 5 N2 - A newborn male, born to Turkish first cousins, presented with severe pre- and postnatal growth retardation. Weight was 800 g at term. Salient clinical features were dwarfism with moderate limb shortening, microcephaly, hirsutism, facial dysmorphism including prominent small cloudy eyes, large nose with high nasal root, retrognathism and low-set ears. Radiologic abnormalities included huge clavicles, dysplastic vertebrae and enlargement of proximal metaphyses with medial spurs. SN - 0009-9163 UR - https://www.unboundmedicine.com/medline/citation/2282715/Primordial_osteodysplastic_dwarfism_type_I_in_association_with_corneal_clouding:_evidence_for_autosomal_recessive_inheritance_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=1990&volume=38&issue=5&spage=359 DB - PRIME DP - Unbound Medicine ER -