Overgrowth, congenital hypotonia, nystagmus, strabismus, and mental retardation: Variant of dominantly inherited Sotos sequence?

We report on 2 patients with macrocephaly, strabismus, esotropia, nystagmus, hypolonia, developmental delay, excessive size, unusual facial appearance, and improvement with age. Many of these abnormalities are present in Sotos sequence. The mothers of both patients share some characteristics with th...

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Veröffentlicht in:	American journal of medical genetics 1988-04, Vol.29 (4), p.783-792
Hauptverfasser:	Goldstein, D. J., Ward, R. E., Moore, E., Fremion, A. S., Wappner, R. S., Optiz, John M., Reynolds, James F.
Format:	Artikel
Sprache:	eng
Schlagworte:	anthropometry autosomal dominant inheritance Biological and medical sciences cerebral gigantism Complex syndromes craniofacial pattern profile Female Genes, Dominant Growth Disorders - genetics Humans Infant, Newborn Intellectual Disability - genetics Male Medical genetics Medical sciences metacarpophalangeal pattern profile Muscle Hypotonia - congenital Nystagmus, Pathologic - genetics Strabismus - genetics variable expression
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Zusammenfassung:	We report on 2 patients with macrocephaly, strabismus, esotropia, nystagmus, hypolonia, developmental delay, excessive size, unusual facial appearance, and improvement with age. Many of these abnormalities are present in Sotos sequence. The mothers of both patients share some characteristics with their children. These patients may represent an autosomal dominant form of Sotos sequence.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/ajmg.1320290408