Tags

Type your tag names separated by a space and hit enter

Triplets with growth failure, microcephaly, mental retardation, nail hypoplasia and corpus callosum agenesis: is it a variant of Coffin-Siris or a new syndrome?
Turk J Pediatr. 2000 Apr-Jun; 42(2):171-6.TJ

Abstract

We report eight-year-old triplet girls whose clinical features included microcephaly, severe mental retardation, hypoplasia of distal phalanges of both fifth and second fingers and nail hypoplasia on second fingers, dysmorphic facial features, and partial corpus callosum agenesis. During infancy, a Pavlik harness was used for congenital hip dislocation, and they had difficulty in feeding. One had been operated for patent ductus arteriosus. To our knowledge, this rare combination has not been previously reported in triplets whose clinical features closely resemble those of Coffin-Siris syndrome. The other diagnostic possibilities are also reviewed.

Authors+Show Affiliations

Kirel B
Department of Pediatrics, Osmangazi University Faculty of Medicine, Eskişehir, Turkey.
Kural N
No affiliation info available
Yakut A
No affiliation info available
Adapinar B
No affiliation info available

MeSH

Abnormalities, MultipleAgenesis of Corpus CallosumChildDiseases in TwinsFemaleGrowth DisordersHumansIntellectual DisabilityKaryotypingMicrocephalyNail DiseasesSyndromeTriplets

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

10936989

Citation

Kirel, B, et al. "Triplets With Growth Failure, Microcephaly, Mental Retardation, Nail Hypoplasia and Corpus Callosum Agenesis: Is It a Variant of Coffin-Siris or a New Syndrome?" The Turkish Journal of Pediatrics, vol. 42, no. 2, 2000, pp. 171-6.
Kirel B, Kural N, Yakut A, et al. Triplets with growth failure, microcephaly, mental retardation, nail hypoplasia and corpus callosum agenesis: is it a variant of Coffin-Siris or a new syndrome? Turk J Pediatr. 2000;42(2):171-6.
Kirel, B., Kural, N., Yakut, A., & Adapinar, B. (2000). Triplets with growth failure, microcephaly, mental retardation, nail hypoplasia and corpus callosum agenesis: is it a variant of Coffin-Siris or a new syndrome? The Turkish Journal of Pediatrics, 42(2), 171-6.
Kirel B, et al. Triplets With Growth Failure, Microcephaly, Mental Retardation, Nail Hypoplasia and Corpus Callosum Agenesis: Is It a Variant of Coffin-Siris or a New Syndrome. Turk J Pediatr. 2000 Apr-Jun;42(2):171-6. PubMed PMID: 10936989.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Triplets with growth failure, microcephaly, mental retardation, nail hypoplasia and corpus callosum agenesis: is it a variant of Coffin-Siris or a new syndrome? AU - Kirel,B, AU - Kural,N, AU - Yakut,A, AU - Adapinar,B, PY - 2000/8/11/pubmed PY - 2000/9/23/medline PY - 2000/8/11/entrez SP - 171 EP - 6 JF - The Turkish journal of pediatrics JO - Turk J Pediatr VL - 42 IS - 2 N2 - We report eight-year-old triplet girls whose clinical features included microcephaly, severe mental retardation, hypoplasia of distal phalanges of both fifth and second fingers and nail hypoplasia on second fingers, dysmorphic facial features, and partial corpus callosum agenesis. During infancy, a Pavlik harness was used for congenital hip dislocation, and they had difficulty in feeding. One had been operated for patent ductus arteriosus. To our knowledge, this rare combination has not been previously reported in triplets whose clinical features closely resemble those of Coffin-Siris syndrome. The other diagnostic possibilities are also reviewed. SN - 0041-4301 UR - https://www.unboundmedicine.com/medline/citation/10936989/Triplets_with_growth_failure_microcephaly_mental_retardation_nail_hypoplasia_and_corpus_callosum_agenesis:_is_it_a_variant_of_Coffin_Siris_or_a_new_syndrome L2 - http://www.diseaseinfosearch.org/result/4735 DB - PRIME DP - Unbound Medicine ER -