A new case of holoprosencephaly-polydactyly syndrome with alobar holoprosencephaly, preaxial polydactyly and congenital glaucoma.

Abstract

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.

• Authors: G Sandal, L Tok, A R Ormeci
• Journal: Genetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 25 Issue 1 Pg. 49-52 ( 2014) ISSN: 1015-8146 [Print] Switzerland
• PMID: 24783655 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (pathology)
• Chromosomes, Human, Pair 13
• Female
• Fetal Macrosomia (pathology)
• Gestational Age
• Glaucoma (congenital)
• Hand Deformities, Congenital (pathology)
• Holoprosencephaly (pathology)
• Humans
• Infant, Newborn
• Infant, Premature
• Polydactyly (pathology)
• Thumb (abnormalities)
• Trisomy (pathology)