Синдром Ламберта
ORPHA:1296· ICD-10 Q87.8· Lambert syndrome
Визначення(English summary)
A very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Unknown
- Вік початку
- Neonatal