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Congenital hypoparathyroidism, seizure, extreme growth failure with developmental delay and dysmorphic features—another case of this new syndrome
Author(s) -
Kalam M. A.,
Hafeez W.
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03220.x
Subject(s) - failure to thrive , hypoparathyroidism , medicine , pediatrics , abnormality , congenital disorder , short stature , hypertelorism , growth retardation , anatomy , surgery , biology , pregnancy , genetics , psychiatry
A 4‐year‐old Saudi female child with extreme failure to thrive, striking dysmorphic features, developmental delay, congenital hypoparathyroidism, UTI. seizures, chronic otitis media, chronic non‐specific gastroenteritis and repeated life‐threatening infections was followed from birth. She was the product of first‐cousin consanguineous marriage. She had striking facies with frontal prominence, deep‐set eyes, depressed nasal bridge, beaked nose, long philtrum with thin upper lip, micrognathia, large floppy ears, bifid uvula, and growth retardation with SD score < — 2 for height, weight and head circumference. We believe these features which include congenital hypoparathyroidism, severe growth failure and developmental delay in the absence of chromosomal abnormality represent a newly described genetically determined syndrome.