Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: A new X-linked dominant multiple congenital anomalies syndrome?

Abstract

We describe a multiple congenital anomalies (MCA) syndrome dominantly transmitted through three generations. Radial ray abnormalities with wide variability of expression were observed in four female patients. Moreover, a 14-week-gestation male fetus had severe radial ray malformation, anencephaly, unilateral renal agenesis, and a common dorsal mesentery. Results of high-resolution karyotyping were normal in the malformed fetus and his affected mother. Furthermore, several spontaneous abortions of male fetuses had occurred in this pedigree. To our knowledge, a similar association has not been described previously. It could represent a new X-linked dominant MCA syndrome, or an autosomal dominant condition with severe expression limited to males.

Anomalies of the forebrain with radial limb defects: Garcia‐Lurie‐Steinfeld syndrome?

“…Most of the anomalies in case 3, including the holoprosencephaly, radial anomaly, unilobar lung, and renal agenesis are consistent with Steinfeld syndrome. The encephalocele, however, makes patient 3 comparable to the patient of Manouvrier et al (2000), whom we have classified with possible Steinfeld syndrome or with the “possible Garcia‐Lurie” families in which neural tube defects were reported. Thus, each of our patients could be considered to have some features intermediate between GLS and Steinfeld syndrome.…”

“…The full range of expression remains unknown. Manouvrier et al (2000) reported an autosomal or sex‐linked dominant condition that differed from Steinfeld syndrome primarily in that the proband had anencephaly rather than holoprosencephaly (Table 4). Since several other syndromes discussed above can cause holoprosencephaly and/or neural tube defects, it is not clear whether this distinction is valid.…”

“…Since several other syndromes discussed above can cause holoprosencephaly and/or neural tube defects, it is not clear whether this distinction is valid. Manouvrier et al (2000) considered the radioulnar synostosis in the proband's mother to be another distinguishing feature, but since the upper limb defects in Steinfeld syndrome range from mild thumb hypoplasia to phocomelia (including a “stiff elbow”) and those in the report of Manouvrier et al (2000) range from short forearm and radioulnar synostosis to mild thenar hypoplasia, it is not clear that the type or severity of radial ray defects can distinguish the two conditions. The autosomal dominant pattern of inheritance supports the diagnosis of Steinfeld syndrome since dominant inheritance has not been reported in other forebrain‐radial syndromes.…”