27 April 1998

We have a patient with a possible Carey-Finemam-Ziter syndrome.

At birth he had hypotonia, dysmorphic and myopathic face: hypertelorism, epicantus, down labial comisures, Pierre Robin anomaly, bilateral VI and VII nerve palsy. Hypoplastic right thumb without flexion crease, clinodactily bilateral of the 2nd finger, single flexion crease in the left 5th finger and clubbed foot. A tracheotomy was performed at 3 months. Since then he needs mechanical ventilation.

Metabolic screening in blood and urine, muscular enzymes, biochemical, hematopoyetic and cytogenetic studies were normal. Muscle biopsy showed minimum and nonspecifics changes. EMG detect normal answer of limbs squeletic muscle,
and absence activity of voluntary and reflexes face musculature. Molecular study of myotonic dystrophy was normal. MRI findings included ventricular dilatation, light brain and brainstem atrophy.

We would like to know your opinion and extra information about the evolution of this entity  (we have the articles: Carey et al.1982, Schimke et al.1993, Baraitser and Reardon 1994)