Aural atresia and microtia in Kabuki syndrome
β Scribed by Kokitsu-Nakata, Nancy Mizue ;Guion-Almeida, Maria Leine
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 111 KB
- Volume
- 118A
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
β¦ Synopsis
syndrome and at left, atresia aural and microtia, signs not described in this condition. It is possible that microtia represent an additional feature in Kabuki syndrome, or, this uncommon association may represent two distinctive conditions: Kabuki syndrome and microtia, aural atresia and conductive hearing loss syndrome.
π SIMILAR VOLUMES
We report on three sibs with right-sided microtia, meatal atresia, and conductive deafness. Two of the sibs also had right-sided palatoplegia. These sibs may have the autosomal-recessive form of microtia (No. 25180, McKusick [ 1983]), of which few familial cases are known to date. The malformation i
## Abstract Both hepatoblastoma and neuroblastoma are occasionally associated with congenital syndromes such as BeckwithβWiedemann syndrome and trisomy 18. There have been no reports of hepatoblastoma in patients with Kabuki syndrome, whereas one patient with neuroblastoma and this syndrome has bee