Microtia

A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.

Microretrognathia

A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.


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(per page)
PMID (PMCID)
9783713
FEMALE Infant
Further evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial clefting.
Davies AF, Imaizumi K, Mirza G, Stephens RS, Kuroki Y, Matsuno M, Ragoussis J.
J Med Genet. 1998;35(10):857-61.
Here we present a female patient with cleft palate, severe growth retardation, developmental delay, frontal bossing, hypertelorism, antimongoloid slant, bilateral ptosis, flat nasal bridge, hypoplastic nasal alae, protruding upper lip, microretrognathia, bilateral, low set, and posteriorly rotated ears, bilateral microtia, narrow ear canals, short neck, and a karyotype of 46,XX,t(6;9)(p24;p23).