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Autosomal recessive type of whistling face syndrome in twins.
Pediatrics 1982; 69(3):328-31Ped

Abstract

A report of concordant monochorionic, diamnionic like-sex twins with whistling face syndrome is presented. The diagnosis was based on the characteristic facies with prominent supraorbital ridge, sunken eyes, telacanthus, short nose and colobomata of the nostrils, long philtrum, high narrow palate, and marked microstomia with puckered lips and an "H"-shaped cutaneous dimpling on the chin. The hands showed symmetrically clenched fingers with camptodactyly and ulnar deviation. The feet demonstrated mild bilateral talipes equinovarus. HLA studies to determine the zygosity of the twins showed discordance in HLA haplotypes, which indicated dizygosity. The pedigree analysis showed normal nonconsanguineos parents, and no other family members had the syndrome. The findings support the existence of an autosomal recessive type of whistling face syndrome.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7199706

Citation

Kousseff, B G., et al. "Autosomal Recessive Type of Whistling Face Syndrome in Twins." Pediatrics, vol. 69, no. 3, 1982, pp. 328-31.
Kousseff BG, McConnachie P, Hadro TA. Autosomal recessive type of whistling face syndrome in twins. Pediatrics. 1982;69(3):328-31.
Kousseff, B. G., McConnachie, P., & Hadro, T. A. (1982). Autosomal recessive type of whistling face syndrome in twins. Pediatrics, 69(3), pp. 328-31.
Kousseff BG, McConnachie P, Hadro TA. Autosomal Recessive Type of Whistling Face Syndrome in Twins. Pediatrics. 1982;69(3):328-31. PubMed PMID: 7199706.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Autosomal recessive type of whistling face syndrome in twins. AU - Kousseff,B G, AU - McConnachie,P, AU - Hadro,T A, PY - 1982/3/1/pubmed PY - 1982/3/1/medline PY - 1982/3/1/entrez SP - 328 EP - 31 JF - Pediatrics JO - Pediatrics VL - 69 IS - 3 N2 - A report of concordant monochorionic, diamnionic like-sex twins with whistling face syndrome is presented. The diagnosis was based on the characteristic facies with prominent supraorbital ridge, sunken eyes, telacanthus, short nose and colobomata of the nostrils, long philtrum, high narrow palate, and marked microstomia with puckered lips and an "H"-shaped cutaneous dimpling on the chin. The hands showed symmetrically clenched fingers with camptodactyly and ulnar deviation. The feet demonstrated mild bilateral talipes equinovarus. HLA studies to determine the zygosity of the twins showed discordance in HLA haplotypes, which indicated dizygosity. The pedigree analysis showed normal nonconsanguineos parents, and no other family members had the syndrome. The findings support the existence of an autosomal recessive type of whistling face syndrome. SN - 0031-4005 UR - https://www.unboundmedicine.com/medline/citation/7199706/Autosomal_recessive_type_of_whistling_face_syndrome_in_twins_ L2 - http://pediatrics.aappublications.org/cgi/pmidlookup?view=long&pmid=7199706 DB - PRIME DP - Unbound Medicine ER -