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We present clinical and neuropathological details of a patient with hemihypertrophy and hemimegalencephaly who may have Proteus syndrome. The observation of polysyndactyly in the case indicates either that polysyndactyly is a rare manifestation in Proteus syndrome, or that a separate condition, mimicking Proteus syndrome and pursuing a similar clinical course, might exist.
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The study of limb development has provided insight into pattern formation during vertebrate embryogenesis. Genetic approaches offer powerful ways to identify the critical molecules and their pathways of action required to execute a complex morphogenetic program. We have applied genetic analysis to the process of limb development by studying two mouse mutants, limb deformity (ld) and Strong's luxoid (lst). These mutations confer contrasting phenotypic alterations to the anteroposterior limb pattern. The six mutant ld alleles are fully recessive and result in oligosyndactyly of all four limbs. By contrast, the two mutant lst alleles result in a mirror-image polydactylous limb phenotype inherited in a semidominant fashion. Morphological and molecular analysis of embryonic limbs has shown that the ld and lst alleles affect the extent and distribution of two key signaling centers differentially: the apical ectodermal ridge and the zone of polarizing activity. Molecular characterization of the ld gene has defined a new family of evolutionarily conserved proteins termed the formins. The underlying molecular defect in the lst mutation has not been identified; however, both loci are tightly linked on mouse chromosome 2, suggesting the possibility that they may be allelic. In this study, we have used genetic analysis to examine the epistatic and allelic relationships of ld and lst. We observed that in + ld/lst + double heterozygotes, a single mutant ld allele is able to suppress the semi-dominant polydactylous lst limb phenotype. By segregating the lst and ld loci in a backcross, we observed that these loci recombine and are separated by a genetic distance of approximately 6 cM. Therefore, while our observations demonstrate a genetic interaction between ld and lst, it is probable that ld and lst are not allelic. Instead, lst and ld may be operating either in a linear or in a parallel (bypass) genetic pathway to affect the limb signaling centers.
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We report on a baby with holoprosencephaly, median cleft lip, cardiac and genital anomalies, normal upper limbs, and a 46,XX karyotype. We also reviewed 22 karyotypically normal cases whose clinical features resembled trisomy 13 syndrome and compared them with the case we present. The problem of variable expression of the pseudotrisomy 13 syndrome versus genetic heterogeneity is illustrated.
We report on a family in which the autosomal dominant Werner syndrome (WS) (MIM# 188770) affects ten members in three generations. Besides the absent tibiae the propositus had duplication of the fibulae. Possible pathogenetic mechanism is discussed.
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We have studied two unrelated boys with isolated left mirror hand and ulnar duplication. Neither had facial anomalies and family histories were unremarkable. We suggest that these boys have segmental Laurin-Sandrow syndrome, or mirror-image duplication, due to somatic mutation involving precursor cells of the left upper limb and that the facial and digital abnormalities in Laurin-Sandrow syndrome are consistent with ectopic anterior hedgehog signaling in the developing limb bud and in the maxillary processes of the face, which closely resemble findings in the Doublefoot (Dbf) mouse mutant.
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BACKGROUND: We report a 19-week gestation female foetus with a new syndrome characterised by increased nuchal translucency and severe micromelia with campomelia evident from the early second trimester. METHODS AND RESULTS: Cytogenetic studies performed on amniocytes revealed a normal female karyotype. Autopsy after termination of pregnancy showed facial dysmorphism, cleft palate, bowed, shortened limbs, hypoplasia of the preaxial elements in all four limbs with accompanying accessory ossification centres in the feet, and severe calvarial underossification. A diagnosis of otopalatodigital syndrome type 2, associated with mutations in FLNA, a gene encoding the cytoskeletal protein filamin A, was considered but discarded due to the severity of micromelia, early lethality, and the presence of generalised osteopenia instead of hyperostosis. The degree of undermodelling and campomelia was reminiscent of another group of conditions that include atelosteogenesis types 1 and 3, caused by mutations in FLNB. Sequencing analysis did not reveal any pathogenic mutation in the three paralogous filamin genes: FLNA, FLNB and FLNC. CONCLUSION: Clinical, radiological and cytogenetic findings suggest that this phenotype is a new entity whose aetiopathogenesis may be functionally related to the filaminopathies.
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Two male siblings with several malformations are reported. The anomalies detected in both fetuses were mesomelic camptomelia, postaxial hexadactyly and Dandy-Walker complex. There was only one similar previous report in the literature. This combination could represent a specific pattern of malformation or a new syndrome, with different variants. The parents' consanguinity and the recurrence in a subsequent pregnancy suggest an autosomal recessive inheritance pattern.