Congenital nonprogressive myopathy with Möbius and Robin sequence—the Carey‐Fineman‐Ziter syndrome: A confirmatory report

Abstract

Recently, we evaluated a 27-month-old boy with congenital generalized nonspecific myopathy, Möbius sequence, Robin sequence, and failure to thrive. We think the child has the same entity described by Carey, Fineman, and Ziter in 1982 [J Pediatr 101:353-364] and as such represents only the third example of this unusual syndrome. Review of the large number of conditions in which the Robin sequence occurs supports heterogeneity. Our case strengthens the Möbius-Robin association and further defines the Carey-Fineman-Ziter syndrome as a viable entity. It is most likely inherited as an autosomal recessive trait.

M�bius sequence, hypogenitalism, cerebral, and skeletal malformations in two brothers

“…The Carey-Fineman-Ziter syndrome [Carey et al, 1982;Schimke et al, 1993) differs from that present in our patients, in that it includes myopathy with hypotonia and Pierre Robin sequence, but not severe mental retardation or brain malformations. The facial aspect is also different.…”

Robin sequences and complexes: Causal heterogeneity and pathogenetic/phenotypic variability

“…Cohen [1976Cohen [ , 1979Cohen [ , 1981Cohen [ , 1982Cohen [ , 1989Cohen [ , 1990Cohen [ , 1996Cohen [ , 1997aCohen [ , 1997b and Kreiborg and Cohen [1996]. Updated from Shprintzen [1988], Carey et al [1982], Chitayat et al [1991], RichieriCosta and Pereira [1992], Stoll et al [1992], Verloes et al [1990], Bruce and Winship [1993], Schimke et al [1993], Abruzzo and Erickson [1977], Sanderson andFraser [1983] Toriello andCarey [1988], Schrander-Stumpel et al [1991], and Froster-Iskenius et al [1988]. a Some cases represent infants of diabetic mothers.…”

Severe congenital myopathy with Möbius, Robin, and Poland sequences: New aspects of the Carey–Fineman–Ziter syndrome

“…The authors used this sib pair to illustrate the Robin sequence as a consequence of neuromuscular syndromes. Four other children with a similar phenotype have since been described, confirming the validity of the syndrome [Schimke et al, 1993;Baraitser and Reardon, 1994;Ryan et al, 1999]. For the definition of rare syndromes every single case report is important since they may help evaluating the clinical spectrum of the entity.…”

“…In our case laryngostenosis could be the consequence of endotracheal intubation and might therefore not be a primary feature of the CFZ syndrome. The children reported by Carey et al [1982], Schimke et al [1993], and Baraitser and Reardon [1994] have bilateral hypoplasia of the pectoral muscles. In our patient we found a Poland sequence with unilateral aplasia of the right pectoralis muscle, which we believe to be part of the syndrome independently from the overall muscle condition.…”

“…Mental development has been described as normal or delayed. Only six children with CFZ syndrome, two sib pairs [Carey et al, 1982;Ryan et al, 1999] and two sporadic cases [Schimke et al, 1993;Baraitser and Reardon, 1994] have been reported in the literature so far.…”