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Multiple congenital malformations in two sibs reminiscent of hydrolethalus and pseudotrisomy 13 syndromes.
Am J Med Genet. 1995 Apr 10; 56(3):317-21.AJ

Abstract

We report on two sibs, born to consanguineous parents, with defects of the midline including cleft lip and palate, flat nose, hypotelorism, and dysgenesis of corpus callosum, in addition to short limbs, radiolucent tibial notch, digital anomalies, ambiguous genitalia, and hypopituitarism. In spite of the similarities between this condition and the hydrolethalus and pseudotrisomy 13 syndromes, our patients had neither preaxial nor postaxial polydactyly, but had previously undescribed bilateral radiolucent tibial notch, which is not known to be part of those two syndromes. The cases presented here may very well represent a new autosomal recessive syndrome.

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Authors+Show Affiliations

Dincsoy MY
Department of Pediatrics, King Khalid University Hospital, Riyadh, Saudi Arabia.
Salih MA
No affiliation info available
al-Jurayyan N
No affiliation info available
al Saadi M
No affiliation info available
Patel PJ
No affiliation info available

MeSH

Abnormalities, MultipleChromosomes, Human, Pair 13Cleft LipCleft PalateConsanguinityFemaleFingersHumansInfant, NewbornMaleTrisomy

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7778599

Citation

Dincsoy, M Y., et al. "Multiple Congenital Malformations in Two Sibs Reminiscent of Hydrolethalus and Pseudotrisomy 13 Syndromes." American Journal of Medical Genetics, vol. 56, no. 3, 1995, pp. 317-21.
Dincsoy MY, Salih MA, al-Jurayyan N, et al. Multiple congenital malformations in two sibs reminiscent of hydrolethalus and pseudotrisomy 13 syndromes. Am J Med Genet. 1995;56(3):317-21.
Dincsoy, M. Y., Salih, M. A., al-Jurayyan, N., al Saadi, M., & Patel, P. J. (1995). Multiple congenital malformations in two sibs reminiscent of hydrolethalus and pseudotrisomy 13 syndromes. American Journal of Medical Genetics, 56(3), 317-21.
Dincsoy MY, et al. Multiple Congenital Malformations in Two Sibs Reminiscent of Hydrolethalus and Pseudotrisomy 13 Syndromes. Am J Med Genet. 1995 Apr 10;56(3):317-21. PubMed PMID: 7778599.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Multiple congenital malformations in two sibs reminiscent of hydrolethalus and pseudotrisomy 13 syndromes. AU - Dincsoy,M Y, AU - Salih,M A, AU - al-Jurayyan,N, AU - al Saadi,M, AU - Patel,P J, PY - 1995/4/10/pubmed PY - 1995/4/10/medline PY - 1995/4/10/entrez SP - 317 EP - 21 JF - American journal of medical genetics JO - Am J Med Genet VL - 56 IS - 3 N2 - We report on two sibs, born to consanguineous parents, with defects of the midline including cleft lip and palate, flat nose, hypotelorism, and dysgenesis of corpus callosum, in addition to short limbs, radiolucent tibial notch, digital anomalies, ambiguous genitalia, and hypopituitarism. In spite of the similarities between this condition and the hydrolethalus and pseudotrisomy 13 syndromes, our patients had neither preaxial nor postaxial polydactyly, but had previously undescribed bilateral radiolucent tibial notch, which is not known to be part of those two syndromes. The cases presented here may very well represent a new autosomal recessive syndrome. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7778599/Multiple_congenital_malformations_in_two_sibs_reminiscent_of_hydrolethalus_and_pseudotrisomy_13_syndromes_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1995&volume=56&issue=3&spage=317 DB - PRIME DP - Unbound Medicine ER -