Phenotype #0000300226

Individual ID	00408098
Associated disease	-
Phenotype details	1.5 year old boy with an uncomplicated perinatal course. At the age of 2 months, he was noticed to have plugging anterior fontanel. Brain MRI showed subdural hygroma with enlarger subarachnoid space, and he was diagnosed with external hydrocephalus that required taping twice. In addition, he had developmental delay, bilateral optic atrophy, epilepsy, short stature, failure to thrive, and distinctive facial features (prominent forehead, small nose, and micro-retrognathia). Skeletal survey at the age of 2 months showed diffuse sclerosis of the all the axial and peripheral skeleton with loss of corticomedullary differentiation consistent with osteopetrosis. His parents were cousins, and he was the first child for them.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Osteopetrosis, autosomal recessive 7
Age/Examination	1y6m (1 year, 6 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-13 19:19:00 +02:00 (CEST)
Date last edited	N/A