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Problems in polydactyly of the foot.

1. Polydactyly should be treated early. 2. Adequate bone and soft tissue should be removed. 3. One arm of the Y should be removed surgically in the incompletely duplicated Y metatarsal. 4. The incompletely duplicated Y metatarsal shaved to form a single shaft may at first be bowed, but will remodel to form normal or nearly normal bone. 5. The wide metatarsal head associated with a duplicated phalanx should be narrowed surgically to avoid the development of a painful bunion. 6. Short block-like metatarsals remain abnormal. 7. Polydactyly associated with a short first metatarsal and congenital hallux varus carriers a poorer treatment prognosis and may require continuing treatment. 8. Postoperative casting and taping should be utilized to prevent angular deformities and encourage normal forefoot contour.

Casts, Surgical↗

[Renal hypoplasia, polydactyly, cardiopathy: a new syndrome?].

The occurrence of a polymalformation pattern associated with a polydactyly indicates a mendelian inheritance. We report a case with renal hypoplasia, polydactyly, congenital heart defects. A large literature review makes the differential diagnosis and brings this case nearer to an anterior observation of the literature. We discuss an eventual new syndrome with autosomal recessive inheritance.

Abnormalities, Multiple↗

[Fusion correction of polydactyly].

Polydactyly is the most common aesthetic hand anomaly. Its surgical correction is indicated for aesthetic, but especially for functional reasons. Independent of the degree and location (pre- or postaxial) of the anomaly the creation of one single unit, which corresponds to the functional as well as to the cosmetical demands is the main purpose of the operative correction. The principle of this operative procedure is the fusion of the two fingers by using all existent structures. Therefore and due to the individuality of each case of polydactyly only after clear exposure identification of soft tissue structures is possible. Resecting procedures of bony and soft tissue structures which are performed before the fusion shall therefore be performed after the exposure and by preservation of all structures, which are necessary for growth, function, sensibility and blood supply. Using these principles clinical experiences which were made with this method are demonstrated while also postoperative results are shown.

Child, Preschool↗

Preaxial polydactyly.

A case of preaxial polydactyly and its surgical correction has been presented. The surgical management and postoperative complications were reviewed from the literature. The genetic basis for this type of polydactyly and its rate of occurrence were discussed. This patient's family exhibited an autosomal dominant gene with incomplete penetrance carried by the female members. The patient's family should be consulted regarding the possible genetic continuation of these anomalies in the female members of the family. The patient has had an unremarkable postoperative course with no reported adverse sequelae. The patient and surgeons were very satisfied with the final result. Figure 8 illustrates the surgical results 1 year postoperatively.

Female↗

[Postaxial polydactyly in a female neonate associated with hydrocolpos due to vaginal atresia and with a congenital cardiopathy: the McKusick-Kaufman syndrome].

The existence in a new-born child of post-axial polydactyly, associated with an abdominal tumor due to hydrocolpos, because of a low vaginal atresia, and with congenital heart-disease, recalls the diagnosis of the McKusick-Kaufman syndrome. This syndrome must be differentiated from the Ellis-Van Creveld syndrome, which also includes polydactyly and congenital heart disease, associated with a "chondrodysplasis" and an "ectodermodysplasia".

Female↗

[Type III shortrib-polydactyly syndrome (Verma-Naumoff) in concomitance with ectodermal dysplasia (author's transl)].

Reported in this paper is a case of shortrib-polydactyly syndrome in a stillborn male infant. The case was identified as Type III (Verma-Naumoff) on account of typical skeletal findings, such as very short ribs, micromelia, postaxial hexadactyly of all extremities, and shortened cranial base, with due consideration being also given, in that context, to characteristic radiographic and histological changes, including metaphysial spurs of long cylindrical bones. Malformations were recorded also from kidneys, ureters, small intestine, and pancreas.--Thin downy head-hair, missing eyebrows, precocious dentition, as well as partial hypoplasia and aplasia of nails were interpreted as signs of ectodermal dysplasia.--Shortrib-polydactyly syndrome is based on autosomal recessive inheritance. Early genetic advice should be offered to parents. Systematic prenatal diagnosis is necessary in case of another pregnancy.

Abnormalities, Multiple↗

Laurence-Moon-Bardet-Biedl syndrome and polydactyly.

Lawrence-Moon-Bardet-Biedl Syndrome (LMBBS) is a rare disorder that presents most commonly with five cardinal features including polydactyly. A review of LMBBS and a case report is presented. The practitioner should be aware that polydactyly may be one manifestation of a genetic syndrome.

Adult↗

Lethal short rib syndrome of the Beemer type without polydactyly.

A new case of Beemer short-rib dwarfism is reported and the clinical and radiological differences between this and Majewski type are discussed. The clinical variability related to the lack or presence of polydactyly is underlined, together with the importance of prenatal diagnosis.

Humans↗

Severe limb deficiencies, vertebral hypersegmentation, and mirror polydactyly: two additional cases that expand the phenotype to a more generalized effect on blastogenesis.

We report on 2 unrelated fetuses with a multiple congenital anomaly pattern of severe limb deficiencies, vertebral/rib alterations, and mirror polydactyly similar to that described previously by us [Urioste et al., Hum Genet 97:214-217, 1996]. In addition, the two cases we present here have a more extense alteration of blastogenesis, expanding the phenotype of the cases previously reported. We have suggested [Urioste et al., Hum Genet 97:214-217, 1996] that this condition may be caused by a mutation in a developmental control gene that affects body-plan organization. The minimal estimate of the prevalence of this new entity in our population (the Spanish Collaborative Study of Congenital Malformations, ECEMC) is 3.0/ 1,000,000 live births.

Abnormalities, Multiple↗

Trisomy 2p syndrome: a fetus with anencephaly and postaxial polydactyly.

We report on a male fetus with partial trisomy 2p21-2pter and monosomy 15q26-15qter due to t(2,15)(p21;q26). This fetus had a typical trisomy 2p phenotype including minor facial anomalies, musculoskeletal defects and two unusual findings: polydactyly and anencephaly. The observation of anencephaly adds support to the theory that genetic material mapping to chromosome band 2p24 is involved in neural tube development. In addition, we propose that a gene on 2p23 may play a role in the morphogenetic patterning of hands and feet.

Abortion, Eugenic↗

Palmar and plantar pads and flexion creases of genetic polydactyly mice (Pdn).

Attempts to gain a better understanding of the relationship between the epidermal ridge patterns (dermatoglyphics) and flexion creases on the volar aspects of human hands and feet and specific medical disorders led to a search for a suitable animal model, allowing studies of the fetal development of the pertinent structures. A common experimental animal, the rat (Rattus norvegicus), was found to be an excellent candidate, owing to the strong resemblance of the volar pads and flexion creases on its palmar and plantar surfaces to those of human subjects. A hereditary preaxial polydactyly mouse (Pdn) provides an opportunity to study the effects of this malformation on the surrounding morphological structures and, specifically, on the volar pads, i.e., the sites over which the dermatoglyphic patterns develop. The hands and feet of the wild-type (+/+) mice show no anomalies, and their major pad and flexion crease configurations correspond to those of normal rats. The heterozygous (Pdn/+) mice, in spite of having a thumb/big toe with a duplicated distal phalanx on their hands/feet, did not display any alterations in palmar/plantar pads. The homozygous (Pdn/Pdn) mice have a protrusion in the thenar area and one to three supernumerary digits on the preaxial portion of both the hands and feet. The effect of these anomalies was found to be limited to the pad and flexion crease configurations in the preaxial areas; the postaxial sites were not affected. The original number of pads on the thenar/first interdigital areas of Pdn/Pdn mice was apparently identical to that of the +/+ and Pdn/+mice. The preaxial protrusion, however, affected the number, size, and location of the pads observed in the newborn mice, resulting in varying pad configurations, such as fused and scattered pads or a pad cluster formed by gathering the neighboring pads. These pad modifications were induced by the preaxial plantar/palmar protrusion only and were not affected by the presence of supernumerary preaxial digits. In view of the similarities in the morphology and fetal development of human and mouse distal limbs, the present study is relevant to human subjects, particularly to the understanding of the significance of dermatoglyphic variations in individuals with specific medical disorders. Future studies of naturally occurring or experimentally induced limb malformations in mice or rats should provide valuable insights into the development of human hands and feet and into factors contributing to their congenital anomalies.

Animals↗

Unusual short rib-polydactyly syndrome.

We present a case of lethal short rib-polydactyly syndrome (SRPS) that cannot be categorized into the existing classification. A nosologic discussion is presented. To our knowledge, situs inversus totalis, as in our case, has not been described before in any SRPS.

Adult↗

Persistence of müllerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly, renal and craniofacial anomalies.

We describe 3 unrelated newborn males with a previously unreported constellation of congenital anomalies. All 3 died neonatally of hepatic failure. Clinically, they presented with a pattern of malformations characterized by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, and postaxial polydactyly. All 3 cases had male external genitalia with cryptorchidism, and 2 of them, a small penis. Necropsies showed similar internal anomalies, consisting of müllerian duct remnants, lymphangiectasis, and renal anomalies. The karyotypes were normal (46, XY) in skin fibroblasts (Case 1) and in peripheral blood lymphocytes (Case 3). Although this pattern of congenital anomalies must be differentiated from several other lethal syndromes, to our knowledge, no similar cases have been described previously. Cause of this syndrome is unknown. Because Case 2 had a previous brother with similar anomalies, we suspect that this new entity probably is an autosomal recessive or X-linked trait.

Abnormalities, Multiple↗

Short rib-polydactyly syndrome (SRPS) with anencephaly and other central nervous system anomalies: a new type of SRPS or a more severe expression of a known SRPS entity?

We describe two patients with short rib-polydactyly syndrome (SRPS) from two unrelated Spanish families. These patients present clinical and radiological characteristics that overlap those of the different established types of SRPS. In addition, one patient had anencephaly and the other patient had severe brain abnormalities with a family history of an older sister with anencephaly, and a brother diagnosed with SRPS. This second family is interesting in that the two affected brothers present with different clinical and radiological findings; for example, one had ovoid tibiae and the other did not. This particular family shows that intrafamiliar variation is also observed within SRPS. It remains unsettled whether these cases might be considered a new type of SRPS or a variant of an established entity or whether the differences between the SRPS represent variability or heterogeneity. Molecular studies may answer this question in the near future.

Anencephaly↗

Polydactyly, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: a new multiple malformation syndrome, or a severe form of oral-facial-digital syndrome type IV?

We describe a 27-week fetus with occipitoschisis, polydactyly, campomelia, cleft palate, laryngeal dysplasia, ocular colobomata, hepatic fibrosis and intrahepatic cyst, ambiguous genitalia, cystic dysplastic kidneys, and brain malformation. This pattern of abnormalities appears unique. The differential diagnosis is discussed. The parents are first cousins, making autosomal recessive inheritance likely.

Abnormalities, Multiple↗

Polydactyly in a carrier of the gene for the Meckel syndrome.

Much of the Meckel syndrome literature has been concerned with the criteria for diagnosis but little has been said concerning heterozygote expression. We describe 3 affected brothers whose father and his paternal first cousin had postaxial polydactyly of both feet. A review of the literature was undertaken with regard to possible manifesting heterozygotes. We conclude that it is important to examine the relatives of patients with the Meckel syndrome for mild abnormalities, as these may be evidence of a manifesting heterozygote. Such information may be useful for genetic counselling.

Abnormalities, Multiple↗