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Cleft lip and palate, corneal opacities and profound psychomotor retardation. A newly recognized genetic syndrome?
Cleft Palate J. 1983 Jul; 20(3):246-50.CP

Abstract

Clinical histories and physical features of two sisters affected with a previously unreported syndrome are presented with illustrations. The manifestations were profound postnatal growth and psychomotor retardation, hydrocephaly, cleft lip and palate, corneal opacities, central nervous system impairment, and genitourinary anomalies. Four other siblings, two males and two females and the parents of the affected were examined and found to be normal. Infectious, metabolic, and chromosomal etiologies were excluded by appropriate studies. The most likely pattern of inheritance is autosomal recessive.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

6577987

Citation

Anyane-Yeboa, K, et al. "Cleft Lip and Palate, Corneal Opacities and Profound Psychomotor Retardation. a Newly Recognized Genetic Syndrome?" The Cleft Palate Journal, vol. 20, no. 3, 1983, pp. 246-50.
Anyane-Yeboa K, Mackay C, Taterka P, et al. Cleft lip and palate, corneal opacities and profound psychomotor retardation. A newly recognized genetic syndrome? Cleft Palate J. 1983;20(3):246-50.
Anyane-Yeboa, K., Mackay, C., Taterka, P., Merkrebs, A., & Allendorf, D. (1983). Cleft lip and palate, corneal opacities and profound psychomotor retardation. A newly recognized genetic syndrome? The Cleft Palate Journal, 20(3), 246-50.
Anyane-Yeboa K, et al. Cleft Lip and Palate, Corneal Opacities and Profound Psychomotor Retardation. a Newly Recognized Genetic Syndrome. Cleft Palate J. 1983;20(3):246-50. PubMed PMID: 6577987.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cleft lip and palate, corneal opacities and profound psychomotor retardation. A newly recognized genetic syndrome? AU - Anyane-Yeboa,K, AU - Mackay,C, AU - Taterka,P, AU - Merkrebs,A, AU - Allendorf,D, PY - 1983/7/1/pubmed PY - 1983/7/1/medline PY - 1983/7/1/entrez SP - 246 EP - 50 JF - The Cleft palate journal JO - Cleft Palate J VL - 20 IS - 3 N2 - Clinical histories and physical features of two sisters affected with a previously unreported syndrome are presented with illustrations. The manifestations were profound postnatal growth and psychomotor retardation, hydrocephaly, cleft lip and palate, corneal opacities, central nervous system impairment, and genitourinary anomalies. Four other siblings, two males and two females and the parents of the affected were examined and found to be normal. Infectious, metabolic, and chromosomal etiologies were excluded by appropriate studies. The most likely pattern of inheritance is autosomal recessive. SN - 0009-8701 UR - https://www.unboundmedicine.com/medline/citation/6577987/Cleft_lip_and_palate_corneal_opacities_and_profound_psychomotor_retardation__A_newly_recognized_genetic_syndrome L2 - http://www.diseaseinfosearch.org/result/1672 DB - PRIME DP - Unbound Medicine ER -