A newly recognized inherited syndrome of dwarfism, craniosynostosis, retinitis pigmentosa, and multiple congenital malformations

Semilobar holoprosencephaly, coronal cra

Semilobar holoprosencephaly, coronal craniosynostosis, and multiple congenital anomalies: A severe expression of the Genoa syndrome or a newly recognized syndrome?

✍ Lapunzina, Pablo ;Musante, Gabriel ;Pedraza, Ana ;Prudent, Luis ;Gadow, Enrique 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 124 KB 👁 2 views

We report on a female newborn with holoprosencephaly, craniosynostosis, and multiple congenital anomalies including cloverleaf skull, Dandy-Walker malformation, bilateral microphthalmia, cleft soft palate, congenital scoliosis, hypoplastic nails and coarctation of aorta. Some of these features are c