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Short stature, brachydactyly, small ears, and a pattern of minor anomalies in brother and sister born to consanguineous parents: a hitherto unreported syndrome?
Am J Med Genet. 1990 Jun; 36(2):243-6.AJ

Abstract

A 13-year-old boy and his 28-year-old sister had short stature, obesity, and a pattern of minor anomalies including a sloping, narrow forehead; small ears; a narrow nose with prominent bridge and long septum; short upper lip; receding mandible; and short limbs with brachydactyly and clinodactyly of little fingers. The boy also had hypoplastic external genitalia and elevated FSH. Both are of normal intelligence. There is remote consanguinity of the (normal) parents. The 2 sibs probably represent a hitherto un-recognized syndrome of possibly autosomal recessive inheritance.

Authors+Show Affiliations

Schinzel A
Institute of Medical Genetics, University of Zurich, Switzerland.
Bernasconi S
No affiliation info available

MeSH

AdolescentAdultConsanguinityEarFemaleFingersGrowth DisordersHumansInfant, NewbornMaleObesitySyndrome

Pub Type(s)

Comparative Study
Journal Article

Language

eng

PubMed ID

2368813

Citation

Schinzel, A, and S Bernasconi. "Short Stature, Brachydactyly, Small Ears, and a Pattern of Minor Anomalies in Brother and Sister Born to Consanguineous Parents: a Hitherto Unreported Syndrome?" American Journal of Medical Genetics, vol. 36, no. 2, 1990, pp. 243-6.
Schinzel A, Bernasconi S. Short stature, brachydactyly, small ears, and a pattern of minor anomalies in brother and sister born to consanguineous parents: a hitherto unreported syndrome? Am J Med Genet. 1990;36(2):243-6.
Schinzel, A., & Bernasconi, S. (1990). Short stature, brachydactyly, small ears, and a pattern of minor anomalies in brother and sister born to consanguineous parents: a hitherto unreported syndrome? American Journal of Medical Genetics, 36(2), 243-6.
Schinzel A, Bernasconi S. Short Stature, Brachydactyly, Small Ears, and a Pattern of Minor Anomalies in Brother and Sister Born to Consanguineous Parents: a Hitherto Unreported Syndrome. Am J Med Genet. 1990;36(2):243-6. PubMed PMID: 2368813.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Short stature, brachydactyly, small ears, and a pattern of minor anomalies in brother and sister born to consanguineous parents: a hitherto unreported syndrome? AU - Schinzel,A, AU - Bernasconi,S, PY - 1990/6/1/pubmed PY - 1990/6/1/medline PY - 1990/6/1/entrez SP - 243 EP - 6 JF - American journal of medical genetics JO - Am J Med Genet VL - 36 IS - 2 N2 - A 13-year-old boy and his 28-year-old sister had short stature, obesity, and a pattern of minor anomalies including a sloping, narrow forehead; small ears; a narrow nose with prominent bridge and long septum; short upper lip; receding mandible; and short limbs with brachydactyly and clinodactyly of little fingers. The boy also had hypoplastic external genitalia and elevated FSH. Both are of normal intelligence. There is remote consanguinity of the (normal) parents. The 2 sibs probably represent a hitherto un-recognized syndrome of possibly autosomal recessive inheritance. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/2368813/Short_stature_brachydactyly_small_ears_and_a_pattern_of_minor_anomalies_in_brother_and_sister_born_to_consanguineous_parents:_a_hitherto_unreported_syndrome DB - PRIME DP - Unbound Medicine ER -