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Syndrome of cleft palate, microcephaly, large ears, and short stature (Say syndrome).
Am J Med Genet. 1993 Feb 01; 45(3):358-60.AJ

Abstract

In 1975 Say et al. (Humangenetik 26:267-269) reported on a new dominantly inherited syndrome of cleft palate, short stature, microcephaly, large ears, and hand anomalies in 4 members of a family. This is a report of a 13-month-old girl with cleft palate, short stature, microcephaly, sparse scalp hair, large abnormally shaped ears, small hands with tapering fingers, delayed bone age, unusual dermatoglyphics, proximal renal tubular acidosis with cystic dysplasia of the kidneys, and developmental delay. This case appears to be the second report of this syndrome which presumably occurred as a new mutation in this family.

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Authors+Show Affiliations

Abu-Libdeh B
Department of Pediatrics, Los Angeles County-University of Southern California Medical Center 90033.
Fujimoto A
No affiliation info available
Ehinger M
No affiliation info available

MeSH

Abnormalities, MultipleAcidosis, Renal TubularCleft PalateEar, ExternalFemaleGenes, DominantGrowth DisordersHand Deformities, CongenitalHumansInfantKidneyMicrocephalySyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8434624

Citation

Abu-Libdeh, B, et al. "Syndrome of Cleft Palate, Microcephaly, Large Ears, and Short Stature (Say Syndrome)." American Journal of Medical Genetics, vol. 45, no. 3, 1993, pp. 358-60.
Abu-Libdeh B, Fujimoto A, Ehinger M. Syndrome of cleft palate, microcephaly, large ears, and short stature (Say syndrome). Am J Med Genet. 1993;45(3):358-60.
Abu-Libdeh, B., Fujimoto, A., & Ehinger, M. (1993). Syndrome of cleft palate, microcephaly, large ears, and short stature (Say syndrome). American Journal of Medical Genetics, 45(3), 358-60.
Abu-Libdeh B, Fujimoto A, Ehinger M. Syndrome of Cleft Palate, Microcephaly, Large Ears, and Short Stature (Say Syndrome). Am J Med Genet. 1993 Feb 1;45(3):358-60. PubMed PMID: 8434624.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Syndrome of cleft palate, microcephaly, large ears, and short stature (Say syndrome). AU - Abu-Libdeh,B, AU - Fujimoto,A, AU - Ehinger,M, PY - 1993/2/1/pubmed PY - 1993/2/1/medline PY - 1993/2/1/entrez SP - 358 EP - 60 JF - American journal of medical genetics JO - Am J Med Genet VL - 45 IS - 3 N2 - In 1975 Say et al. (Humangenetik 26:267-269) reported on a new dominantly inherited syndrome of cleft palate, short stature, microcephaly, large ears, and hand anomalies in 4 members of a family. This is a report of a 13-month-old girl with cleft palate, short stature, microcephaly, sparse scalp hair, large abnormally shaped ears, small hands with tapering fingers, delayed bone age, unusual dermatoglyphics, proximal renal tubular acidosis with cystic dysplasia of the kidneys, and developmental delay. This case appears to be the second report of this syndrome which presumably occurred as a new mutation in this family. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8434624/Syndrome_of_cleft_palate_microcephaly_large_ears_and_short_stature__Say_syndrome__ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1993&volume=45&issue=3&spage=358 DB - PRIME DP - Unbound Medicine ER -