Blepharo-cheilo-dontic (BCD) syndrome: expanding the phenotype, case report and review of literature.
The combination of lagophthalmia, euryblepharon, ectropion of lower eyelids, distichiasis, bilateral cleft lip and palate, and oligodontia comprises the blepharo-cheilo-dontic (BCD) syndrome. This combination has been found sporadically or with positive family history and inherited as an autosomal dominant condition with variable expression. We described a Saudi boy with the cardinal signs consistent with the BCD syndrome. In addition to the common components of BCD syndrome that involve eyelids, lip, and teeth abnormalities, this patient is the third reported BCD case with imperforate anus, the second with thyroid agenesis, and the first with lumbosacral meningomyelocele.
Division of Genetics, Department of Pediatrics, King Abdul Aziz Medical City for National Guard, Riyadh, Saudi Arabia.
Farouq K
FK
Ababneh
Abdulrahman
A
Al-Swaid
Ahmed
A
Elhag
Talaat
T
Youssef
Saif
S
Alsaif
D001006:Anus, Imperforate; D002971:Cleft Lip / Q000235:genetics* / Q000473:pathology*; D002972:Cleft Palate / Q000235:genetics* / Q000473:pathology*; D004483:Ectropion / Q000235:genetics* / Q000473:pathology*; D005143:Eyelids / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics / Q000473:pathology; D008297:Male; D012529:Saudi Arabia; D016135:Spinal Dysraphism; D014071:Tooth Abnormalities / Q000235:genetics* / Q000473:pathology*
anal atresia; blepharo-cheilo-dontic; cleft lip and palate; euryblepharon; lagophthalmia; spina bifida; thyroid agenesis