Congenital hypoparathyroidism, seizure, extreme growth failure with developmental delay and dysmorphic features--another case of this new syndrome.
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 less than -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.
Kalam
M A
MA
Sulaimania Children's Hospital, Riyadh, Kingdom of Saudi Arabia.
Hafeez
W
W
D000015:Abnormalities, Multiple; D002675:Child, Preschool; D005183:Failure to Thrive; D005260:Female; D006801:Humans; D007011:Hypoparathyroidism / Q000151:congenital*; D008607:Intellectual Disability; D012640:Seizures; D013577:Syndrome