microcephaly/비만증

A previously unrecognised X-chromosomal mental retardation syndrome is described. Clinical hallmarks are mental retardation, epileptic seizures, hypogonadism, and -genitalism, microcephaly and obesity. Life expectancy of patients is less than two years. Based on the major clinical symptoms this

MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly and Obesity) is an X-linked disorder characterised by mental retardation, epileptic seizures, hypogenitalism, microcephaly and obesity. It was recently assigned to the locus Xp21.1-p22.13. We describe a child with MEHMO and

Some imprinted genes exhibit parental origin specific expression bias rather than being transcribed exclusively from one copy. The physiological relevance of this remains poorly understood. In an analysis of brain-specific allele-biased expression, we identified that Trappc9, a cellular trafficking

Mosaic variegated aneuploidy (MVA) is a rare condition characterized by multiple trisomies, rarely monosomies, and a non-specific phenotype including microcephaly, growth and mental retardation, mild malformations, and an increased risk of malignancy. We describe a patient with MVA in whom trisomy

A family with X-linked recessive microcephaly is reported. As patients there were found 8 men or boys respectively out of 3 generations, all of them being related by their mentally healthy mothers. Besides microcephaly the patients showed growth retardation and obesity. Some of them, in addition,

BACKGROUND People with psychiatric diagnoses have increased physical health difficulties. OBJECTIVE To examine the physical growth parameters documented in children receiving psychiatric treatment. METHODS A chart review was performed on consecutive paediatric consultations in 1997 and 1998 on 34

Three patients with features of the Cohen Syndrome are reported. Main facial features are prominent nasal bridge, short philtrum, prominent upper central incisors, and retrogenia. There is microcephaly and short stature. Truncal obesity appears in mid childhood. Mental retardation seems to be

The clinical features of Angelman syndrome (AS) comprise severe mental retardation, postnatal microcephaly, macrostomia and prognathia, absence of speech, ataxia, and a happy disposition. We report on seven patients who lack most of these features, but presented with obesity, muscular hypotonia and

Two brothers are described with a severe syndrome of postnatal growth and mental retardation which includes extreme microcephaly, obesity developing during infancy, microgonadismsm, and a characteristic amphora-shaped facies. The neurological exam is highly abnormal, with hypertonia and

A syndrome of young-onset diabetes mellitus associated with microcephaly, epilepsy and intellectual disability caused by mutations in the tRNA methyltransferase 10 homologue A (TRMT10A) gene has recently been described. We report two siblings from the fourth family reported to have diabetes mellitus

Intermediate interstitial deletions of the long arm of chromosome 1 are typically associated with developmental delay and dysmorphic features. We describe the case of a 31-year-old male with intellectual disability, obesity and dysmorphic features, in whom array-comparative genomic hybridization

There are limited population-based studies on microcephaly. We characterized the epidemiology of microcephaly in Texas during a 5-year period (2008-2012), prior to the Zika epidemic in the Western hemisphere (2015). The associations of suspected risk factors were compared across four clearly defined

Background Microcephaly and chorioretinopathy (MCCRP) is a rare neuro-ophthalmologic disorder that causes microcephaly and chorioretinopathy. In a recessive inheritance pattern, there are three types: MCCRP1; MCCRP2 and MCCRP3. MCCRP3 results from pathogenic variants in the tubulin-gamma