Corpus callosum agenesis, facial anomalies, Robin sequence, and other anomalies: A new autosomal recessive syndrome?

Abstract

We describe findings in four children, three of whom are sibs, who appear to have the same, previously undescribed multiple congenital anomaly (MCA) syndrome. The main manifestations include agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, Robin sequence, abnormal ears, redundant neck skin, laryngeal anomalies, cardiac defect, short hands, and hypotonia. The presence of this condition in sibs of each sex suggests that autosomal recessive inheritance is the most likely cause.

Acrocallosal syndrome in Algerian boy born to consanguineous parents: Review of the literature and further delineation of the syndrome

“…Brueton and colleagues [1992] provided evi- Schinzel, 1979Schinzel, , 1980 of the hands Nelson and Thomson, 1982Legius et al, 1985Toriello et al, 1986Salgado et al, 1989Yüksel et al, 1990Lungarotti et al, 1991Gelman-Kohan et al, 1991Wendisch et al, 1990 Frequent respiratory infections Schinzel, 1979Pfeiffer et al, 1992Nelson and Thomson, 1982Yüksel et al, 1990 Failure to thrive Schinzel, 1979Schinzel and Schmid, 1980Nelson and Thomson, 1982Hendriks et al, 1990Christianson et al, 1994 dence that the ACS and GCPS do not result from allelic mutations nor do they represent contiguous deletions of different size involving the same segment on the short arm of chromosome 7. Differential diagnoses in our patient may include the cerebrooculofacioskeletal, Aicardi, Neu-Laxova, OFD II, pseudotrisomy 13, Toriello-Carey [1988], otopalatodigital II [Holder and Winter, 1993], and Da Silva [1988] syndromes. These syndromes seem to be excluded, or at least much less likely, by the combination of findings present in our male patient.…”

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.…”

Multiple congenital anomalies syndrome: Growth and mental retardation, microcephaly, preauricular skin tags, cleft palate, camptodactyly, and distal limb anomalies. Report on two unrelated Brazilian patients

“…Traits that distinguish our cases from Braddock-Carey syndrome are the absence of thrombocypenia, deafness, and corpus callosum anomalies, and the presence of preauricular tags [ Braddock and Carey, 1994]. Structural anomalies of the central nervous system were also observed in cerebro-facio-articular syndrome [Zampino et al, 1994] and Toriello-Carey syndrome [Toriello and Carey, 1988]; preauricular tags are not present in either condition. Cleft palate is not known in the cerebrofacio-ocular syndrome.…”