1/23. Delineation of a complex karyotypic rearrangement by microdissection and CGH in a family affected with split foot.We report on a male patient and members of his family with additional material in chromosome 3. This derivative chromosome 3 was transmitted from his mother who had a complex rearrangement between chromosomes 2, 3, and 7. It was possible to delineate her chromosomal rearrangement by microdissection and reverse painting and to exclude these aberrations from being responsible for neonatal deaths and several abortions in this family. Two members of this family suffer from ectrodactyly or split hand/foot malformations (SHFM) of the feet which possibly correlates with the derivative chromosome 7 containing a breakpoint in the SHFM1 critical region involving several homeobox genes.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
2/23. Brachyphalangy, feet polydactyly, absent/hypoplastic tibiae: a further case and review of main diagnostic findings.In 1997, Baraitser et al. (Clin Dysmorphol 6:111-121) described a patient with a complex phenotype characterized by facial dysmorphism, micropenis, brachydactyly, pre-axial polydactyly of the feet and tibial aplasia. We report here a patient with similar features.- - - - - - - - - - ranking = 0.2keywords = complex (Clic here for more details about this article) |
3/23. Correction of complex foot deformities using the Ilizarov external fixator.There are many drawbacks to using conventional approaches to the treatment of complex foot deformities, like the increased risk of neurovascular injury, soft-tissue injury, and the shortening of the foot. An alternative approach that can eliminate these problems is the Ilizarov method. In the current study, a total of 23 deformed feet in 22 patients were treated using the Ilizarov method. The etiologic factors were burn contracture, poliomyelitis, neglected and relapsed clubfoot, trauma, gun shot injury, meningitis, and leg-length discrepancy (LLD). The average age of the patients was 18.2 (5-50) years. The mean duration of fixator application was 5.1 (2-14) months. We performed corrections without an osteotomy in nine feet and with an osteotomy in 14 feet. Additional bony corrective procedures included three tibial and one femoral osteotomies for lengthening and deformity correction, and one tibiotalar arthrodesis in five separate extremities. At the time of fixator removal, a plantigrade foot was achieved in 21 of the 23 feet by pressure mat analysis. Compared to preoperative status, gait was subjectively improved in all patients. Follow-up time from surgery averaged 25 months (13-38). Pin-tract problems were observed in all cases. Other complications were toe contractures in two feet, metatarsophalangeal subluxation from flexor tendon contractures in one foot, incomplete osteotomy in one foot, residual deformity in two feet, and recurrence of deformity in one foot. Our results indicate that the Ilizarov method is an effective alternative means of correcting complex foot deformities, especially in feet that previously have undergone surgery.- - - - - - - - - - ranking = 1.2keywords = complex (Clic here for more details about this article) |
4/23. Split hand/split foot, iris/choroid coloboma, hypospadias and subfertility: a new developmental malformation syndrome?This paper presents a patient with the following malformations: split hand and split foot on the left side, a hypoplastic fifth ray of the right hand and a hypoplastic first ray of the right foot with a small cleft between the first and second ray; eye abnormalities which consist of a complete iris coloboma of the left eye in an atypical position (cranio-temporal) and a coloboma of the choroid in the right eye; a glandular hypospadias and terato-zoospermia. Since split hand/split foot can be caused by mutations in the p63 gene, mutation analysis of this gene was performed. However, sequencing analysis did not reveal a mutation. This malformation complex may represent a new syndrome.- - - - - - - - - - ranking = 0.2keywords = complex (Clic here for more details about this article) |
5/23. Bilateral congenital convex pes valgus a case report.This paper reports bilateral congenital convex pes valgus frequently termed vertical talus. A successful simple one-stage surgical reconstruction is described to enhance the understanding of the management of this rare complex deformity. Long follow up is emphasized because of a high incidence of recurrence. There has been a one-year follow up so far. Plantigrade and painless feet have been achieved which enables the patient to wear normal shoes.- - - - - - - - - - ranking = 0.2keywords = complex (Clic here for more details about this article) |
6/23. A pair of sibs with tibial hemimelia born to phenotypically normal parents.Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with relatively intact fibula. Tibial hemimelia is identified as a solitary disorder, or a part of more complex malformation syndromes. Although the majority of cases with tibial hemimelia are sporadic, affected families with possible autosomal dominant or autosomal recessive inheritance have been reported. Here we report a pair of sibs, 6- and 2-year-old Japanese boys, with tibial hemimelia born to unrelated, phenotypically normal parents. The type of tibial hemimelia and associated malformations of hands and feet was quite different between the brothers. The elder brother was compatible with the Gollop-Wolfgang complex, and the younger brother with tibial agenesis-ectrodactyly syndrome. Screening of mutation by direct sequencing of candidate genes including Sonic hedgehog, HOXD-11, and HOXD-12 was unable to identify a disease-causing mutation.- - - - - - - - - - ranking = 0.4keywords = complex (Clic here for more details about this article) |
7/23. Popliteal pterygium syndrome with special consideration of the cleft malformation: case report.This report describes a new case of popliteal pterygium syndrome (PPS) and also a treatment protocol. The patient presented with the complete complex of PPS and additional abnormalities that have not been described in the literature: a sinus of the upper lip, an extreme hypopoplastic prolabium with aplasia of the vestibule in this area, and a velar pterygium.- - - - - - - - - - ranking = 0.2keywords = complex (Clic here for more details about this article) |
8/23. cleft palate and complex chromosome rearrangements.Two of three unrelated children with de novo congenital complex chromosome rearrangements (CCR) with more than four chromosome breaks had cleft lip and palate as one of several congenital anomalies. In patient 1, unilateral complete cleft of the primary and secondary palates accompanied severe ectrodactyly, bilateral posterior choanal atresia and several minor congenital anomalies. Karyotypes of peripheral lymphocytes and skin fibroblasts showed five derivative chromosomes with six break points. There were two translocations, t(2;5), t(3;11) and an interstitial deletion, del(13)(q12q14). Patient 2 had a bilateral complete cleft of the lip and palate, in addition to slow pre- and postnatal growth and minor congenital anomalies. Peripheral lymphocytes and palatal mucosa fibroblasts karyotypes showed five derivative chromosomes with six break points. A partial deletion of 10p, two translocations, t(2;3), t(7;18) and an inversion of the derivative chromosome 2 were present. In both patients, a "major catastrophe" of unknown etiology in one of the parental gametes appeared to be the event leading to the stable CCR without evidence of persistent chromosome instability. All four parents had normal karyotypes. The presence of palatal clefts in these patients indicates that dysmorphologists and pediatricians have to consider CCR whenever taking care of a patient with cleft palate, particularly if additional anomalies, no matter how subtle, are present. The detection and interpretation of the latter anomalies are essential for the diagnosis and management of these patients. Accurate cytogenetic diagnosis determines the short- and long-term prognosis and facilitates genetic counseling in regard to life-span, quality of life and reproductive plans of patients and parents.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
9/23. Island nail transfer in the treatment of macrodactyly of the great toe: a case report.Macrodactyly involving the great toe is difficult to treat when both the functional and cosmetic problems are addressed simultaneously. Partial resection of the distal phalanx is an easy way to reduce the length of the involved toe. However, there are cosmetic concerns with loss of the toenail. The authors report on a clinical case in which shortening and debulking of the toe was performed while preserving the hallux nail. The nail complex was transferred as an island flap to the dorsal aspect of the proximal phalanx. At the 1-year follow-up, the length of the reconstructed toe was significantly decreased, with a normal-looking nail.- - - - - - - - - - ranking = 0.2keywords = complex (Clic here for more details about this article) |
10/23. Anaesthetic problems in a child with ectrodactyly, ectodermal dysplasia and cleft lip/palate. The EEC syndrome.The EEC syndrome is a congenital anomaly complex associated with ectrodactyly, ectodermal dysplasia, and cleft lip and palate. We present a patient with the complete form of this syndrome who had undergone eight operations in childhood. The main problems encountered by the anaesthetists were malnutrition, difficulty with control of body temperature related to hypohidrosis and persistent infection of the respiratory tract.- - - - - - - - - - ranking = 0.2keywords = complex (Clic here for more details about this article) |
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