Severe case of Al Awadi/Raas-Rothschild syndrome or new, possibly autosomal recessive facio-skeleto-genital syndrome.Am J Med Genet. 1995 Mar 27; 56(2):168-72.AJ
Abstract
A Sicilian girl whose parents were first cousins had a severe tetramelic limb deficiency (amelia of lower limbs, peromelia of upper limbs) and other defects including cleft lip and palate, facial anomalies, athelia, low umbilicus, bladder exstrophy, no external genitalia, and anteriorly displaced anus. This probably represents a particularly severe case of Al Awadi/Raas-Rothschild syndrome (limb/pelvis-hypoplasia/aplasia syndrome, LPHAS), but the possibility of a new autosomal recessive facio-skeleto-genital syndrome cannot be excluded.
Links
MeSH
Pub Type(s)
Case Reports
Journal Article
Review
Language
eng
PubMed ID
7625440
Citation
Mollica, F, et al. "Severe Case of Al Awadi/Raas-Rothschild Syndrome or New, Possibly Autosomal Recessive Facio-skeleto-genital Syndrome." American Journal of Medical Genetics, vol. 56, no. 2, 1995, pp. 168-72.
Mollica F, Mazzone D, Cimino G, et al. Severe case of Al Awadi/Raas-Rothschild syndrome or new, possibly autosomal recessive facio-skeleto-genital syndrome. Am J Med Genet. 1995;56(2):168-72.
Mollica, F., Mazzone, D., Cimino, G., & Opitz, J. M. (1995). Severe case of Al Awadi/Raas-Rothschild syndrome or new, possibly autosomal recessive facio-skeleto-genital syndrome. American Journal of Medical Genetics, 56(2), 168-72.
Mollica F, et al. Severe Case of Al Awadi/Raas-Rothschild Syndrome or New, Possibly Autosomal Recessive Facio-skeleto-genital Syndrome. Am J Med Genet. 1995 Mar 27;56(2):168-72. PubMed PMID: 7625440.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR
T1 - Severe case of Al Awadi/Raas-Rothschild syndrome or new, possibly autosomal recessive facio-skeleto-genital syndrome.
AU - Mollica,F,
AU - Mazzone,D,
AU - Cimino,G,
AU - Opitz,J M,
PY - 1995/3/27/pubmed
PY - 1995/3/27/medline
PY - 1995/3/27/entrez
SP - 168
EP - 72
JF - American journal of medical genetics
JO - Am J Med Genet
VL - 56
IS - 2
N2 - A Sicilian girl whose parents were first cousins had a severe tetramelic limb deficiency (amelia of lower limbs, peromelia of upper limbs) and other defects including cleft lip and palate, facial anomalies, athelia, low umbilicus, bladder exstrophy, no external genitalia, and anteriorly displaced anus. This probably represents a particularly severe case of Al Awadi/Raas-Rothschild syndrome (limb/pelvis-hypoplasia/aplasia syndrome, LPHAS), but the possibility of a new autosomal recessive facio-skeleto-genital syndrome cannot be excluded.
SN - 0148-7299
UR - https://www.unboundmedicine.com/medline/citation/7625440/Severe_case_of_Al_Awadi/Raas_Rothschild_syndrome_or_new_possibly_autosomal_recessive_facio_skeleto_genital_syndrome_
L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1995&volume=56&issue=2&spage=168
DB - PRIME
DP - Unbound Medicine
ER -