Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome


Macrocephaly

Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.


Total: 1

                       


(per page)
PMID (PMCID)
27753196
 MIXED_SAMPLE Infant
Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.
Moosa S, Bohrer-Rabel H, Altmuller J, Beleggia F, Nurnberg P, Li Y, Yigit G, Wollnik B.
Am J Med Genet A. 2017;173(1):264-267.
Heterozygous germline mutations in MTOR have been shown to underlie Smith-Kingsmore syndrome, a rare autosomal dominant syndrome characterized by macrocephaly, developmental delay, and dysmorphic facial features.