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- W2154451336 abstract "The proband was the second child of nonconsanguineous and healthy parents. No similar cases or cases of premature ovarian failure or infertility were described in the family. The mother and father’s ages at the birth of the proband were 25 and 46, respectively. The older sister, now 11 years old, was born with a congenital cardiac defect: atrial septal defect associated with persistent ductus arteriosus of Botallo, which resolved spontaneously. The proband was 3 years old at the time of the first examination (Figure 1). The mother had a normal pregnancy and delivery. Birth weight was 3200 g (50° percentile), length 50 cm (50-75° percentile), head circumference 34.5 cm (50-75° percentile) and thoracic circumference 34 cm (+1SD/+2SD). Blepharophimosis, ptosis, and epicanthus inversus were immediately noticed at birth. The occurrence of 5 febrile convulsive episodes and frequent regurgitation were described by the parents. The proband achieved normal developmental milestones. At the time of the first investigation, a compensatory chin-up position was present. No additional ocular or systemic malformations were detected except for a mild syndactyly between the 2° and 3° toe bilaterally, a broad and flat nasal bridge, high vaulted and narrow palate, and an asymmetry in the maxillary region. None of these minor malformations were present in either parent, except for the facial asymmetry in the mother. The proband’s abilities and behavior were adequate for his age. No cognitive tests were performed because the parents did not consent to them. Echocardiography, electroencephalogram, brain magnetic resonance imaging, and abdominal and pelvic echography were normal except for the identification of 1 polar cyst in the right kidney. A chromosome analysis at 400 banding resolution revealed a normal 46,XY karyotype." @default.
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- W2154451336 date "2006-06-01" @default.
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- W2154451336 title "Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Clinical and Molecular Analysis of a Case" @default.
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- W2154451336 doi "https://doi.org/10.1016/j.jaapos.2006.01.002" @default.
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