Acronym = MUscle, LIver, BRain, EYe
Inheritance: autosomal recessive
Genetic locus: 17q22-q23
Protein affected: in the RING-B-box-Coiled-coil (RBCC) family of zinc-finger proteins
Clinical features:
(1) growth failure, with intrauterine growth retardation
(2) triangular face with frontal bossing and depressed nasal bridge
(3) muscle hypotonia
(4) peculiar voice
(5) constrictive pericarditis
(5a) pericardial fibrosis
(5b) hepatomegaly
(5c) distended neck veins
(6) optic fundus with yellow dots and pigment dispersion
(7) choroidal hypoplasia
(8) dolichocephaly
(9) size of hands and feet large relative to rest of body
(10) dental crowding, hypodontia of second bicuspid, hypoplasia of dental enamel
(11) small or absent frontal and/or sphenoid sinuses
(12) fibrous dysplasia in bones, especially the tibia
(13) high-pitched voice
(14) cutaneous nevi
(15) possible hypopituitarism
