Another case of the autosomal recessive Weaver-like syndrome

✍ Scribed by Slaney, Sarah F.; Winter, Robin M.

• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 7 KB
• Volume: 72
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19971031)72:3<369::aid-ajmg23>3.0.co;2-q

✦ Synopsis

Recessive Weaver-Like Syndrome

To the Editor:

We recently saw a 2 1/2-year-old boy who was referred for assessment of developmental retardation and facial anomalies. The clinical findings resembled those of 2 sibs reported by Teebi et al. [1989], who suggested the diagnosis of a Weaver syndrome-like autosomal recessive disorder.

Our patient was the second child of consanguineous parents originally from Iraq. During the pregnancy the mother reported reduced fetal movements, and he was born at 38 weeks of gestation with a birth weight of 3.8 kg. At the age of 4 months he had generalised hypotonia and delayed psychomotor development and was investigated extensively. Results of a full range of metabolic tests, including lactate, pyruvate, thyroid studies, and amino and organic acids, were all normal, as were the karyotype (including fragile X), nerve conduction velocities, EMG of the quadriceps, and a muscle biopsy. An MRI of his brain showed only mild dilation of the cerebral ventricles, and the skull film a slightly flattened sella. The only abnormal finding was an advanced bone age at the left wrist.

He continued to make slow developmental progress