Pontine hypoplasia in Carey-Fineman-Ziter (CFZ) syndrome.
نویسندگان
چکیده
We describe an infant with multiple congenital anomalies including cleft palate and micrognathia, Möbius sequence, developmental delay, myopathy, hydronephrosis, and bilateral clubfeet. These features are consistent with Carey-Fineman-Ziter (CFZ) syndrome (MIM 254940), which has been previously reported in six children (including two sibling pairs). Cranial magnetic resonance imaging (MRI) revealed an unusually small pons, a finding not previously described in CFZ syndrome.
منابع مشابه
Carey-Fineman-Ziter (CFZ) syndrome: report on affected sibs.
We describe a sib pair with craniofacial anomalies, micrognathia, Mobius sequence, generalised myopathy, relative macrocephaly, and developmental delay. They appear to have the Carey-Fineman-Ziter syndrome (MIM 254940), which has been reported in only four children, a sib pair and two sporadic cases. This report on an additional affected brother and sister pair supports autosomal inheritance as...
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In 1981 at the Festschrift honoring the many contributions of David W. Smith, I presented a unique pair of siblings with a distinctive pattern of malformation. The paper from this presentation was published as part of a series in the Journal of Pediatrics [Carey et al., 1982], and this condition has come to be called the Carey–Fineman–Ziter syndrome (CFZ). The described disorder included the fo...
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ورودعنوان ژورنال:
- American journal of medical genetics. Part A
دوره 127A 3 شماره
صفحات -
تاریخ انتشار 2004