The microcephaly-lymphoedema syndrome: report of an additional family

Unusual association of simplified gyral pattern and sparse hair in an Egyptian patient with microcephaly–lymphoedema

“…The specific facial phenotype in our patient was similar to that described by Vasudevan et al (2005) who documented the distinct facial appearance associated with this syndrome. Borderline mental retardation and hyperactivity was obvious in our patient but not associated with attention deficit similar to the case of the brother and sister reported by Kozma et al, 1996. Our patient is an isolated case, so it is difficult to be certain of the mode of inheritance. Bilateral lymphoedema of the hands.…”

Evolution of the Human Nervous System Function, Structure, and Development

“…Moreover, humans affected by either congenital or acquired conditions where portions of the brain are severely underdeveloped or missing can have normal or near-normal intelligence and cognitive skills, with examples including some severe forms of microcephaly (Haslam and Smith, 1979; Kozma et al, 1996); childhood hemispherectomy (i.e., disconnection or removal of an entire cerebral hemisphere; Borgstein and Grootendorst, 2002; Devlin et al, 2003; Liégeois et al, 2010; Pulsifer et al, 2004); a patient born with only one hemisphere (Muckli et al, 2009); craniopagus malformation (Lansdell, 1999; Stone and Goodrich, 2006; Todorov et al, 1974), including a pair of craniopagus twins that share a brain and mind (Squair, 2012); individuals with almost complete absence of the cerebellum (Glickstein, 1994; Yu et al, 2015); and a case of severe hydrocephaly (Feuillet et al, 2007). Nevertheless, how a simple change in brain size or neuron and/or glia number could lead to differences in cognitive capabilities is not, at a mechanistic level, well understood.…”

Microcephaly-lymphedema-chorioretinal dysplasia: A unique genetic syndrome with variable expression and possible characteristic facial appearance

“…There were a few reports of autosomal recessive microcephaly-chorioretinal dysplasia [McKusick et al, 1966;Par et al, 1975;Cantú et al, 1977] and a report of autosomal recessive microcephaly-lymphedema [Kozma et al, 1996]. Microcephaly-lymphedema was first reported by Leung [1985] in a four-generation Chinese family with five affected members and two instances of male-to-male transmission, supporting autosomal dominant inheritance.…”