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[Wolf-Hirschhorn syndrome]
Suada Heljić1, Feriha Catibusić, Melika Dozić
1Pedijatrijska klinika KCU Sarajevo.
Medicinski Arhiv
|January 5, 2005
Summary
Wolf-Hirschhorn syndrome (WHS), a rare developmental disorder from 4p deletion, presents with growth and mental retardation, distinct facial features, and midline defects. Early diagnosis and multidisciplinary care are crucial for affected infants.
Area of Science:
- Genetics
- Developmental Biology
- Pediatrics
Background:
- Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder caused by a hemizygous deletion on the short arm of chromosome 4 (4p deletion).
- Key features include intrauterine growth retardation, intellectual disability, characteristic facial dysmorphism, microcephaly, and midline fusion defects.
Observation:
- This report details a female newborn with a 4p deletion exhibiting typical WHS phenotypes: intrauterine growth retardation, microcephaly, facial dysmorphism, hypotonia, and neonatal seizures.
- Additional findings in this case included hypoplastic cervical vertebrae (C4-C5), a renal cyst, and partial agenesis of the corpus callosum, with no cardiac septal defect.
Findings:
- The case presentation highlights the variability in WHS, with the patient displaying most core features but lacking a common cardiac defect.
- The presence of specific anomalies like renal cysts and partial agenesis of the corpus callosum further illustrates the diverse phenotypic spectrum.
Implications:
- Prenatal diagnosis of WHS is critical due to the wide range of potential morphological abnormalities and associated intellectual disability.
- Postnatal management necessitates genetic counseling for parents and comprehensive, multidisciplinary support for the child.