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A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs.
Am J Med Genet. 1978; 1(4):361-75.AJ

Abstract

A brother and sister presented with an uncommon malformation syndrome consisting of severe midface hypoplasia, congenital heart defect, hydronephrosis, clubfeet, hypertrichosis, hypoplasia of dermal ridges, and radiographic skeletal anomalies in the skull, hands and feet. The boy died shortly after birth; the girl lived for 16 months and exhibited severe failure to thrive, epilepsy, diminished growth, and profound motor and intellectual retardation. Additional observations include postaxial hexadactyly in the girl, and mesomelic brachymelia and peculiar, narrow fingernails in the boy. The occurrence of the syndrome in two sibs of different sex suggests autosomal-recessive inheritance.

Authors

No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

665725

Citation

Schinzel, A, and A Giedion. "A Syndrome of Severe Midface Retraction, Multiple Skull Anomalies, Clubfeet, and Cardiac and Renal Malformations in Sibs." American Journal of Medical Genetics, vol. 1, no. 4, 1978, pp. 361-75.
Schinzel A, Giedion A. A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs. Am J Med Genet. 1978;1(4):361-75.
Schinzel, A., & Giedion, A. (1978). A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs. American Journal of Medical Genetics, 1(4), 361-75.
Schinzel A, Giedion A. A Syndrome of Severe Midface Retraction, Multiple Skull Anomalies, Clubfeet, and Cardiac and Renal Malformations in Sibs. Am J Med Genet. 1978;1(4):361-75. PubMed PMID: 665725.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs. AU - Schinzel,A, AU - Giedion,A, PY - 1978/1/1/pubmed PY - 1978/1/1/medline PY - 1978/1/1/entrez SP - 361 EP - 75 JF - American journal of medical genetics JO - Am J Med Genet VL - 1 IS - 4 N2 - A brother and sister presented with an uncommon malformation syndrome consisting of severe midface hypoplasia, congenital heart defect, hydronephrosis, clubfeet, hypertrichosis, hypoplasia of dermal ridges, and radiographic skeletal anomalies in the skull, hands and feet. The boy died shortly after birth; the girl lived for 16 months and exhibited severe failure to thrive, epilepsy, diminished growth, and profound motor and intellectual retardation. Additional observations include postaxial hexadactyly in the girl, and mesomelic brachymelia and peculiar, narrow fingernails in the boy. The occurrence of the syndrome in two sibs of different sex suggests autosomal-recessive inheritance. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/665725/A_syndrome_of_severe_midface_retraction_multiple_skull_anomalies_clubfeet_and_cardiac_and_renal_malformations_in_sibs_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1978&volume=1&issue=4&spage=361 DB - PRIME DP - Unbound Medicine ER -