Hypoplasia of the transverse sinus in oto-palato-digital syndrome type I

✍ Scribed by Suzumura, Hiroshi; Kano, Ken-ichi; Nishimura, Gen

• Publisher: John Wiley and Sons
• Year: 1998
• Tongue: English
• Weight: 14 KB
• Volume: 79
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19981012)79:5<401::aid-ajmg15>3.0.co;2-v

✦ Synopsis

To the Editor:

Oto-palato-digital syndrome (OPD) type I is an Xlinked recessive disorder comprising characteristic facial appearance and skeletal alterations. Although mild mental deficiency is common in this entity, very little is known about abnormalities of the central nervous system. We encountered a boy with OPD type I, who showed severe hypoplasia of the transverse sinuses with enlarged occipital sinuses. This malforma-tion of the basilar dural sinuses may be a syndromal constituent in OPD type I.

The patient was the first child of healthy nonconsanguineous parents. The family history was unremarkable. The patient was normally delivered at 39 weeks of gestation after an unremarkable pregnancy. Birth weight was 2836 g. He was referred at age 1 month for cleft palate and abnormal toes. Physical findings included hypertelorism; apparently low-set and malformed ears; broad, short thumbs and long second toes;