A new case of holoprosencephaly-polydactyly syndrome with alobar holoprosencephaly, preaxial polydactyly and congenital glaucoma.
We report a case of a female baby born at 34 weeks of gestation. Birth weight was 1760 g (10th-25th centile), length 41cm (10th-25th centile) and head circumference 27cm (< 10th centile). Clinical examination revealed microcephaly, hypotelorism, micrognathia, a flat rudimentary nose, high palate, thick dysplastic low-set ears, a short neck, preaxial polydactyly of the right hand, and overriding toes. Investigations showed bilateral congenital glaucoma, alobar holoprosencephaly, severe ventriculomegaly and absence midline structures of the brain, a large atrial septal defect. The karyotype was 46,XX. The case was also diagnosed as having holoprosencephaly-polydactyly syndrome (pseudotrisomy 13) because she had alobar holoprosencephaly, preaxial polydactyly, facial dysmorfism (hypotelorism, micrognathia, a flat rudimentary nose, high palate, thick dysplastic low-set ears) and normal karyotype.
G
G
Sandal
L
L
Tok
A R
AR
Ormeci
D000015:Abnormalities, Multiple / Q000473:pathology*; D002882:Chromosomes, Human, Pair 13; D005260:Female; D005320:Fetal Macrosomia / Q000473:pathology*; D005865:Gestational Age; D005901:Glaucoma / Q000151:congenital*; D006228:Hand Deformities, Congenital / Q000473:pathology*; D016142:Holoprosencephaly / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D017689:Polydactyly / Q000473:pathology*; D013933:Thumb / Q000002:abnormalities; D014314:Trisomy / Q000473:pathology*