Two patients with monomelic ulnar duplication with mirror hand polydactyly: segmental Laurin-Sandrow syndrome.
نویسندگان
چکیده
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.
منابع مشابه
Monomelic Ulnar Dimelia Associated with Ipsilateral Polydactyly: An Extraordinary Anomaly
Ulnar dimelia (mirror deformity) is a rare dysontogenetic deformity of the upper limb caused by an embryonic disturbance of the developing limb bud. It is characterized by two ulnae, the duplication of the ulnar halves of the carpus, metacarpals and phalanges, with the absence of the radius and thumb. It is commonly unilateral. This anomaly may be associated with shoulder dislocation, fibular d...
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Laurin-Sandrow syndrome (LSS) is a rare autosomal dominant disorder characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia. The genetic basis of LSS is currently unknown. LSS shows phenotypic overlap with Haas-type polysyndactyly (HTS) regarding the digital phenotype. Here we report on five unrelat...
متن کاملSandrow syndrome
We report a girl with mirror hands and feet and associated groove of the nasal columella. She represents only the sixth reported case of this spectrum of congenital anomalies, first reported by Laurin and Sandrow. (_/Med Genet 1996;33:426-428)
متن کاملLaurin-Sandrow syndrome (mirror hands and feet and nasal defects): description of a new case.
A child with complete syndactyly of cup shaped hands and mirror polysyndactyly of the feet, together with a nasal defect, was identified out of a total of 1,031,439 livebirths. She had a pattern of multiple congenital anomalies which was similar to that first described by Laurin et al in 1964 and by Sandrow et al in 1970. Two more cases with a similar pattern of congenital anomalies have recent...
متن کاملTreatment of the Mirror Foot with Central Ray Resection: Report of 2 Cases
The mirror foot is a rare congenital foot anomaly which is often associated with 6- to 8-toed polydactyly. Postaxial polydactyly is the most common form of this anomaly, while central polydactyly is seen infrequently. We report on 2 cases of the central mirror-foot anomaly. Calcaneus duplication and fibular hypoplasia were present in 1 case. We treated both patients by resecting the middle foot...
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عنوان ژورنال:
- American journal of medical genetics. Part A
دوره 131 1 شماره
صفحات -
تاریخ انتشار 2004