The Robin sequence as a consequence of malformation, dysplasia, and neuromuscular syndromes

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

“…For the definition of rare syndromes every single case report is important since they may help evaluating the clinical spectrum of the entity. Microcephaly was only described by Carey et al [1982], but could not be confirmed in the later reports. Our patient and case 1 described by Ryan et al [1999] are normocephalic, but the head circumference had decreased in the first year of life.…”

“…The Carey-Fineman-Ziter syndrome (CFZ, OMIM 254940) is an apparently autosomal recessively inherited disorder consisting of the combination of non-progressive congenital myopathy with Möbius and Robin sequence, facial anomalies, and growth delay, first described by Carey et al [1982]. Mental development has been described as normal or delayed.…”

“…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.…”