Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: a new autosomal recessive syndrome.Am J Med Genet. 1992 Mar 01; 42(5):681-7.AJ
Abstract
We report on 5 unrelated Brazilian children with short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot. Genetic aspects and phenotypic manifestations are compared with those of previous reports of acrofacial dysostoses and with other Robin sequence syndromes. We suspect that these patients present a previously undescribed autosomal recessive syndrome.
Links
MeSH
Pub Type(s)
Case Reports
Journal Article
Language
eng
PubMed ID
1632438
Citation
Richieri-Costa, A, and S C. Pereira. "Short Stature, Robin Sequence, Cleft Mandible, Pre/postaxial Hand Anomalies, and Clubfoot: a New Autosomal Recessive Syndrome." American Journal of Medical Genetics, vol. 42, no. 5, 1992, pp. 681-7.
Richieri-Costa A, Pereira SC. Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: a new autosomal recessive syndrome. Am J Med Genet. 1992;42(5):681-7.
Richieri-Costa, A., & Pereira, S. C. (1992). Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: a new autosomal recessive syndrome. American Journal of Medical Genetics, 42(5), 681-7.
Richieri-Costa A, Pereira SC. Short Stature, Robin Sequence, Cleft Mandible, Pre/postaxial Hand Anomalies, and Clubfoot: a New Autosomal Recessive Syndrome. Am J Med Genet. 1992 Mar 1;42(5):681-7. PubMed PMID: 1632438.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR
T1 - Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: a new autosomal recessive syndrome.
AU - Richieri-Costa,A,
AU - Pereira,S C,
PY - 1992/3/1/pubmed
PY - 1992/3/1/medline
PY - 1992/3/1/entrez
SP - 681
EP - 7
JF - American journal of medical genetics
JO - Am J Med Genet
VL - 42
IS - 5
N2 - We report on 5 unrelated Brazilian children with short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot. Genetic aspects and phenotypic manifestations are compared with those of previous reports of acrofacial dysostoses and with other Robin sequence syndromes. We suspect that these patients present a previously undescribed autosomal recessive syndrome.
SN - 0148-7299
UR - https://www.unboundmedicine.com/medline/citation/1632438/Short_stature_Robin_sequence_cleft_mandible_pre/postaxial_hand_anomalies_and_clubfoot:_a_new_autosomal_recessive_syndrome_
L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1992&volume=42&issue=5&spage=681
DB - PRIME
DP - Unbound Medicine
ER -