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2 results on '"Stewart HS"'

1. Sibs with developmental delay, hirsutism and nail hypoplasia: a new syndrome

Author

Stewart Hs, Super M, Bronwyn Kerr, Tomlin P, and Stacey D

Subjects
Male, Hirsutism, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Developmental Disabilities, Nails, Malformed, Nail hypoplasia, Sister, Nuclear Family, Pathology and Forensic Medicine, Diagnosis, Differential, Inheritance (object-oriented programming), medicine, Humans, Abnormalities, Multiple, Genetics (clinical), hirsutism, business.industry, Infant, Newborn, Facies, Syndrome, General Medicine, medicine.disease, Brother, Dermatology, Pediatrics, Perinatology and Child Health, Female, Anatomy, business
Abstract

A sister and brother with developmental delay, hirsutism and variable nail hypoplasia are described. The facial features of these sibs are striking. We postulate that this represents a new syndrome, the inheritance of which is unknown.

Published
2000

2. Two patients with Asymmetric Crying Facies, normal cardiovascular systems and deletion of chromosome 22q11

Author

Smith Jc and Stewart Hs

Subjects
Cardiofacial syndrome, Pathology, medicine.medical_specialty, business.industry, Chromosome, General Medicine, Anatomy, In situ hybridization, medicine.disease, digestive system, digestive system diseases, Pathology and Forensic Medicine, Hypoparathyroidism, Pediatrics, Perinatology and Child Health, medicine, %22">Fish , Asymmetric crying facies, business, 22q11 deletion, Genetics (clinical)
Abstract

We report two unrelated patients with Asymmetric Crying Facies (ACF) and 22q11 deletion. In the first case ACF was the presenting feature. Fluorescent In Situ Hybridization (FISH) revealed 22q11 deletion and subsequent echocardiography demonstrated a normal cardiovascular system. The second presented with hypoparathyroidism, shown on FISH to be secondary to 22q11 deletion. Echocardiography was normal and ACF was found incidentally. Deletion of 22q11 has been reported with ACF occurring as part of the Cardiofacial syndrome (CFS) [Giannotti A, Mingarelli R, (1994): Am J Med Genet 53: 303-304] but this is the first report of ACF with 22q11 deletion in the absence of cardiac abnormalities. A review of the literature pertaining to ACF is presented.

Published
1997

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