Congenital hypoparathyroidism, seizure, extreme growth failure with developmental delay and dysmorphic features--another case of this new syndrome
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This study describes a novel genetic syndrome in a Saudi child with severe failure to thrive, developmental delay, and congenital hypoparathyroidism. The findings suggest a new inherited disorder characterized by distinct facial features and recurrent infections.
Area of Science:
- Genetics
- Pediatrics
- Endocrinology
Background:
- This case report details a pediatric patient presenting with complex medical issues from birth.
- The child's family history includes consanguineous marriage, a known risk factor for genetic disorders.
Observation:
- The patient exhibited extreme failure to thrive, significant developmental delay, and congenital hypoparathyroidism.
- Distinct dysmorphic facial features were noted, including frontal prominence, deep-set eyes, a depressed nasal bridge, beaked nose, long philtrum, thin upper lip, micrognathia, and large floppy ears.
- The child also suffered from recurrent infections, seizures, chronic otitis media, and chronic gastroenteritis.
Findings:
- Growth parameters (height, weight, head circumference) were significantly below normal (SD score < -2).
- Despite extensive evaluation, no chromosomal abnormalities were identified.
- The constellation of symptoms, including congenital hypoparathyroidism, severe growth failure, and developmental delay, suggests a previously undescribed genetic syndrome.
Implications:
- This case may represent a newly identified genetic syndrome, expanding the spectrum of rare pediatric disorders.
- Further research is warranted to identify the specific genetic mutation responsible for this syndrome.
- Understanding this syndrome can aid in early diagnosis and management of affected individuals.
Abstract:
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.