Possible case of Pitt-Hopkins syndrome in sibs.
In this article, we describe two sibs, a brother and sister, with severe mental retardation and multiple congenital anomalies including "coarse" facial features, short stature, seizures, hypertrichosis, short great toes, and overbreathing. Comparison of these patients with previous reports suggests that they could represent the first familial cases of the Pitt-Hopkins syndrome. The recurrence in sibs within the same family supports autosomal recessive inheritance for the condition. Variable expression of the respiratory symptoms, which has not been reported earlier, is underlined.
Orrico
A
A
Medical Genetics, Department of Molecular Biology, Policlinico Le Scotte, 53100 Siena, Italy. orrico@unisi.it
Galli
L
L
Zappella
M
M
Lam
C W
CW
Bonifacio
S
S
Torricelli
F
F
Hayek
G
G
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D019465:Craniofacial Abnormalities; D005192:Family Health; D005260:Female; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D006985:Hyperventilation / Q000473:pathology; D008607:Intellectual Disability / Q000473:pathology*; D008297:Male; D013577:Syndrome