Giemsa banding of chromosome 1gh+ and linkage analysis.... Concordance between synophrys and the 1qh+ marker was the only consistent phenotypic relationship....
Research article ube2a deficiency syndrome: mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in... Facial dysmorphisms include ocular hypertelorism, synophrys, and a depressed nasal bridge....
Cornelia de lange syndrome with nipbl gene mutation: a case report... We experienced a case of newborn with CdLS showing bushy eyebrows and synophrys, long curly eyelashes, long philtrum, downturned angles of the mouth and thin upper lips, cleft palate, micrognathia, excessive body hair, micromelia of both hands, ...
Two adult females with a distinct familial mental retardation syndrome: non-progressive neurological symptoms with ataxia and hypotonia, similar facial appearance, hypergonadotrophic hypogonadism, and retinal dystrophy.... Both presented the distinct association of (1) a non-progressive neurological syndrome with ataxia and hypotonia, (2) similar craniofacial appearance with a narrow forehead, prominent supraorbital ridges and tendency to synophrys, deeply set eyes with short, upward slanting palpebral fissures, short philtrum, and large mouth, (3) hypergonadotrophic hypogonadism, and (4) retinal dystrophy with...
