,Disease characteristics. 1p36 deletion syndrome is characterized by typical craniofacial features consisting of straight eyebrows, deep-set eyes, midface hypoplasia, broad and flat nasal root/bridge, long philtrum, pointed chin, large, late-closing anterior fontanel (77%), microbrachycephaly (65%), epicanthal folds (50%), and posteriorly rotated, low-set, abnormal ears. Other characteristic findings include brachy/camptodactyly and short feet. Developmental delay/intellectual disability of variable degree are present in all, and hypotonia in 95%. Seizures occur in 44% to 58% of affected individuals. Other findings include structural brain abnormalities (88%), congenital heart defects (71%), eye/vision problems (52%), hearing loss (47%), skeletal anomalies (41%), abnormalities of the external genitalia (25%), and renal abnormalities (22%).Diagnosis/testing. The diagnosis of 1p36 deletion syndrome is suggested by clinical findings and confirmed by detection of a deletion of the most distal band of the short arm of chromosome 1 (1p36). Conventional G-banded cytogenetic analysis, FISH, or array GH can all be used to detect deletions; however, the complexity of some deletions may only be revealed by array GH.
Management. Treatment of manifestations: rehabilitation/educational program with attention to speech/communication, use of sign language, motor development, cognition, and social skills; ACTH for infantile spasms; routine antiepileptic drugs (AEDs) for other seizure types; special feeding techniques and/or devices including gastrostomy tube for feeding difficulties; standard pharmacotherapy for non-compaction cardiomyopathy; standard care for eye/vision problems, skeletal anomalies, hearing loss, hypothyroidism, and renal abnormalities.
Surveillance: systematic follow-up for adjustment of rehabilitation/education and medical treatment as needs change over time.
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