Autori: T. Marcovici, I. Sabau, I. Simedrea, O. Marginean, O. Belei, M.Puiu

Editorial: Nature Publishing Group, European Journal of Human Genetics, vol. 17 Supp 2, p.57, 2009.

Rezumat:

Background: BPES (Blepharophimosis-Ptosis-Epicantus inversus Syndrome) is an autosomal, rare and complex dominant malformation of the eyelids that may severely impair visual function. BPES locus was assigned to 3q23. BPES syndrome Ohdo type is extremely rare.
It is characterized by BPES anomalies and in addition neurological anomalies, growth retardation, congenital heart disease, abnormal ears and clynodactily of fifth fingers are noticed.
Material and methods: We present a five-year and four months old male infant admitted for abnormal phenotype. The patient underwent a complete pediatric, ophthalmologic and neurologic evaluation. Results: No similar case was known in the family. Pregnancy was
uncomplicated and the child was born at 38 weeks of gestation with normal weight and length. In the first year of life seizures are mentioned. The following facial characteristic features were noticed at clinical
examination: short eyelids, blepharophimosis, ptosis of the upper
eyelids, epicantus inversus, telecantus, arched eyebrows, flat, broad
nasal bridge, protruding ears. Limbs defects: clynodactily of fifth fingers,
flatfeet and genu valgum were present. Systolic cardiac murmur,mild mental retardation and growth delay (15 kg weight, 100 cm height and 50 cm occipito-frontal circumference) were determined. Cardiac sonography found atrial septal defect. Ocular ultrasound was normal. MLPA analysis with P036C&P070 kit didn’t find major mutations. Conclusions: Child’s phenotype probably represents variable expression of the Ohdo syndrome. Typical clinical features lead to establishing the diagnosis and permit the surgical treatment of eyelids alterations. The prevention of visual impairment is a very important goal in this case.

Cuvinte cheie: uman, genetic // human, genetics

URL: http://www.eshg.org/eshg2009/download.htm