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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.

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Authors+Show Affiliations

Mollica F
Clinica Pediatrica, Scuola di Specializzazione in Genetica Medica, Università di Catania, Italy.
Mazzone D
No affiliation info available
Cimino G
No affiliation info available
Opitz JM
No affiliation info available

MeSH

Abnormalities, MultipleConsanguinityEctromeliaFaceFatal OutcomeFemaleGenes, RecessiveGenitalia, FemaleHumansInfant, NewbornSyndromeUrinary Bladder

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 -