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

Abstract

We report on a follow-up examination of a family with microcephaly and lymphedema. The finding of chorioretinal dysplasia with variable visual deficit in multiple relatives, which was not previously discovered, supports the concept of microcephaly, lymphedema, and chorioretinopathy as being a single autosomal dominant genetic entity with variable expression. We recommend that fundoscopic examination be performed in all patients with microcephaly with or without lymphedema.

Microcephaly-Lymphedema-Chorioretinal Dysplasia Syndrome: Two Case Reports

“…If there were retinal folds, optic atrophy or macular involvement, severe myopia, nystagmus or blindness can occur. Otherwise the patients with chorioretinal dysplasia can have stable vision [9]. In our first case, she had chorioretinal lesions and retinal pigmentation and her visual performance was good.…”

Pseudo Toxoplasmosis

“…(Angle et al, 1994;Casteels et al, 2001;Eventov-Friedman et al, 2009;Feingold & Bartoshesky 1992;Fryns et al, 1995;Limwongse et al, 1999;Ostergaard et al, 2012;Strauss et al, 2005;Vasudevan et al, 2005). Mental retardation is also usually present.…”

“…Congenital lymphedema is confined to the dorsa of the feet (Angle et al, 1994;Casteels et al, 2001;Eventov-Friedman et al, 2009;Feingold & Bartoshesky 1992;Fryns et al, 1995;Leung, 1985;Limwongse et al, 1999;Strauss et al, 2005;Vasudevan et al, 2005) and this is hardly observed in cases of congenital toxoplasmosis. (Table 1) Intracranial calcifications, which are likely to be present in cases of congenital toxoplasmosis are not observed in cases of MLCRD.…”

“…These signs include microcephaly (Aalfs et al, 1995;Abdel-Salam & Zaki, 2009;AbdelSalam et al, 1999;Abdel-Salam et al, 2000;Ahmadi & Bradfield, 2007;Aicardi & Goutières, 1984;al-Dabbous et al, 1998;al-Gazali et al, 1999;Alzial et al, 1980;Angle et al, 1994;Atchaneeyasakul et al, 1998;Baraitser et al, 1983;Bogdan, 1951;Book et al, 1953;Briggs et al, 2008;Burn et al, 1986;Cantú et al, 1977;Casteels et al, 2001;Dale et al, 2000;EventovFriedman et al, 2009;Feingold & Bartoshesky 1992;Fisch et al, 1973;Fryns et al, 1995;Hoyeraal et al, 1970;Hordijk et al, 1996;Hreidarsson et al, 1988;Ishitsu et al, 1985;Jarmas et al, 1981;Kloepfer et al, 1964;Knoblauch et al, 2003;Komai et al, 1955;Kozma et al, 1996;Kulkarni et al, 2010;Leung, 1985;Limwongse et al, 1999;McKusick et al, 1966;Mishra et al, 2002;Nakamura et al, 2011;Nemos et al, 2009;Ostergaard et al, 2012;Pearson et al, 2008;Reardon et al, 1994;…”

“…The majority of the cases have a family history (Abdel-Salam & Zaki, 2009;Aicardi & Goutières, 1984;al-Dabbous et al, 1998;al-Gazali et al, 1999;Alzial et al, 1980;Atchaneeyasakul et al, 1998;Baraitser et al, 1983;Bogdan, 1951;Book et al, 1953;Briggs et al, 2008;Burn et al, 1986;Cantú et al, 1977;Cohen et al, 2012;Dale et al, 2000;Fisch et al, 1973;Hordijk et al, 1996;Ishitsu et al, 1985;Jarmas et al, 1981;Knoblauch et al, 2003;Kozma et al, 1996;Leung, 1985;Limwongse et al, 1999;McKusick et al, 1966;Reardon et al, 1994;Sadler & Robinson, 1993;Simonell et al, 2002;Slee et al, 1999;Trzupek et al, 2007;van Genderen et al, 1997;Vivarelli et al, 2001;Warburg & Heuer, 1994), and thus a genetic basis has been proposed.…”