Naslov
Carey-Fineman-Ziter syndrome: a report of a new patient and phenotype delineation

Autori
Barišić, Ingeborg ; Petković, Giorgie

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
European Journal of Human Genetics (1018-4813) 12 (2004), suppl 1 ; 125 / Van Ommen, Gert-Jan B. - London : Delhi : Nature publishing group, 2004, 125-125

Skup
European Human Genetics Conference 2004

Mjesto i datum
München, Njemačka, 12.06.2004. - 15.06.2004

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
Carey-Fineman-Ziter syndrome; Mobius sequence; Robin sequence; congenital myopathy

Sažetak
Carey-Fineman-Ziter syndrome is a very rare disorder characterized by a dysmorphic face, Moebius and Robin sequences, congenital myopathy, and growth retardation. Skeletal anomalies and developmental delay are occasionaly present. Only 6 patients have been described so far, two sporadic cases and two pairs of siblings suggesting autosomal recessive inheritance. We report a 9-year old girl with remarkably similar anomalies. Her unusual facial features included high forehead, prominent metopic suture, antimongoloid eye slanting, strabism, high myopia, low-set, poorly shaped ears, hypoplastic alae nasi, short philtrum, cupid shaped, short upper lip, small mouth with receding angles, and Robin sequence. She also had Moebius sequence resulting in distinct functional abnormalities involving eye movement, facial expression, mouth closure, speech and swallowing. During early infancy difficulties in sucking, failure to thrive and marked hypotonia were noted. Shehad bilateral talipes equinovarus with hyperlaxity of other joints. Neurological evaluation showed multiple lesions of the cranial nerves, predominantly n. abducens, and bilateral facial nerve palsy, striking atrophy of the lower leg muscles, reduced deep-tendon reflexes and signs of lower motor neuron lesion on EMG which have not been observed in reported patients so far. Her mental development was within the normal range, although motor defecit, slow speech development, short attentiion span, hyperactivity and disturbances of visual and motor organisation and integration were noted. Our patient delineates the features of Carey-Fineman-Ziter syndrome confirming the Moebius-Robin Sequence associatin to congenital neuromuscular disorders.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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