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New autosomal recessive multiple congenital abnormalities/mental retardation syndrome with craniofacial dysmorphism absent corpus callosum, iris colobomas and connective tissue dysplasia.
Clin Dysmorphol. 1996 Jul; 5(3):231-40.CD

Abstract

We report three sibs, one boy and two girls, with a similar MCA/MR syndrome, where parents were first cousins. They had macrodolichocephaly, an elongated face, apparently low-set simple ears, hypertelorism, bilateral "key-hole' colobomata of the iris, retina and choroid, a beaked nose, micrognathia and dental anomalies. Brain CT scan showed dilated ventricles and an absent corpus callosum. Skeletal anomalies included brachydactyly of the hands and feet, genua vara and flat feet. Two sibs had left ventricular enlargement, and aortic dilatation and regurgitation. Review of the literature from the London Dysmorphology Data Base (LDDB) and OMIM suggests that this family represents a new syndrome.

Authors+Show Affiliations

Temtamy SA
Human Genetics Department, National Research Center, Giza, Cairo, Egypt.
Salam MA
No affiliation info available
Aboul-Ezz EH
No affiliation info available
Hussein HA
No affiliation info available
Helmy SA
No affiliation info available
Shalash BA
No affiliation info available

MeSH

Abnormalities, MultipleAdultAgenesis of Corpus CallosumChildColobomaConnective TissueCraniofacial AbnormalitiesFamilyFemaleGenes, RecessiveHumansIntellectual DisabilityIrisMalePedigree

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

8818452

Citation

Temtamy, S A., et al. "New Autosomal Recessive Multiple Congenital Abnormalities/mental Retardation Syndrome With Craniofacial Dysmorphism Absent Corpus Callosum, Iris Colobomas and Connective Tissue Dysplasia." Clinical Dysmorphology, vol. 5, no. 3, 1996, pp. 231-40.
Temtamy SA, Salam MA, Aboul-Ezz EH, et al. New autosomal recessive multiple congenital abnormalities/mental retardation syndrome with craniofacial dysmorphism absent corpus callosum, iris colobomas and connective tissue dysplasia. Clin Dysmorphol. 1996;5(3):231-40.
Temtamy, S. A., Salam, M. A., Aboul-Ezz, E. H., Hussein, H. A., Helmy, S. A., & Shalash, B. A. (1996). New autosomal recessive multiple congenital abnormalities/mental retardation syndrome with craniofacial dysmorphism absent corpus callosum, iris colobomas and connective tissue dysplasia. Clinical Dysmorphology, 5(3), 231-40.
Temtamy SA, et al. New Autosomal Recessive Multiple Congenital Abnormalities/mental Retardation Syndrome With Craniofacial Dysmorphism Absent Corpus Callosum, Iris Colobomas and Connective Tissue Dysplasia. Clin Dysmorphol. 1996;5(3):231-40. PubMed PMID: 8818452.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - New autosomal recessive multiple congenital abnormalities/mental retardation syndrome with craniofacial dysmorphism absent corpus callosum, iris colobomas and connective tissue dysplasia. AU - Temtamy,S A, AU - Salam,M A, AU - Aboul-Ezz,E H, AU - Hussein,H A, AU - Helmy,S A, AU - Shalash,B A, PY - 1996/7/1/pubmed PY - 1996/7/1/medline PY - 1996/7/1/entrez SP - 231 EP - 40 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 5 IS - 3 N2 - We report three sibs, one boy and two girls, with a similar MCA/MR syndrome, where parents were first cousins. They had macrodolichocephaly, an elongated face, apparently low-set simple ears, hypertelorism, bilateral "key-hole' colobomata of the iris, retina and choroid, a beaked nose, micrognathia and dental anomalies. Brain CT scan showed dilated ventricles and an absent corpus callosum. Skeletal anomalies included brachydactyly of the hands and feet, genua vara and flat feet. Two sibs had left ventricular enlargement, and aortic dilatation and regurgitation. Review of the literature from the London Dysmorphology Data Base (LDDB) and OMIM suggests that this family represents a new syndrome. SN - 0962-8827 UR - https://www.unboundmedicine.com/medline/citation/8818452/New_autosomal_recessive_multiple_congenital_abnormalities/mental_retardation_syndrome_with_craniofacial_dysmorphism_absent_corpus_callosum_iris_colobomas_and_connective_tissue_dysplasia_ DB - PRIME DP - Unbound Medicine ER -