[Arabian variant of Kenny syndrome: a familial case in Tunisia].
Kenny syndrome is rare. Clinical feature include severe dwarfism, growth retardation macrocephaly, episodic hypocalcemia, internal cortical thickening and medullary stenosis of tubular bones. Genetic and phenotypic polymorphisms are characteristic. We report the observation of a Tunisian girl with the arabic variant of Kenny syndrome. She had chronic hypoparathyroidism, classic dwarfism, short stature with hormone deficiency, mental retardation and low helper/suppressor ratio. Our patient had two sisters and one brother with the same dysmorphic face and a marked intra-uterine growth retardation. They died from severe infections. Hypoparathyroidism was established in one sister.
Fitouri
Z
Z
Service de Pédiatrie, urgences et consultations externes, hôpital d'Enfants de Tunis, 1007 Jebbari Bab Saadoun, Tunis, Tunisie.
Fayech
C
C
Ferchichi
M
M
Ben Becher
S
S
D002675:Child, Preschool; D004392:Dwarfism / Q000150:complications* / Q000235:genetics; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D019382:Human Growth Hormone / Q000172:deficiency; D006801:Humans; D006996:Hypocalcemia / Q000150:complications / Q000235:genetics; D007011:Hypoparathyroidism / Q000150:complications* / Q000235:genetics; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D011110:Polymorphism, Genetic; D013577:Syndrome; D014416:Tunisia
D019382:Human Growth Hormone