Cases reported "Syndactyly"

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11/58. focal dermal hypoplasia (Goltz syndrome): report of two cases with minor cutaneous and extracutaneous manifestations.

    Two women, ages 33 and 16 years, had focal dermal hypoplasia (Goltz syndrome) with unusual, minimal clinical manifestations. The lesions consisted of patchy, atrophic, scaly, telangiectatic macules arranged in a linear pattern along Blaschko's lines, involving the anterior and lateral aspects of both legs (patient 1) and the anterolateral aspect of the left leg (patient 2). Type I partial syndactyly involving the second and the third toes in both patients was also present. The clinical and histopathologic features and diagnostic difficulties of cases of this disorder with minimal cutaneous and extracutaneous manifestations are discussed.
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ranking = 1
keywords = dermal hypoplasia, focal dermal hypoplasia, hypoplasia, focal
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12/58. New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria.

    Regional skin hypoplasia has been described in several genetic syndromes, including focal dermal hypoplasia (FDH), microphthalmia with linear skin defects (MLS), oculocerebrocutaneous syndrome (OCCS), and terminal osseous dysplasia and pigmentary defects (TODP). All but OCCS have been reported to follow an X-linked inheritance pattern. We describe a 14-year-old girl with clinical features overlapping with these disorders. She had mild mental retardation, macrocephaly, microphthalmia, right-sided morning glory optic disc anomaly, palmar and lip pits, and polysyndactyly. A swirling pattern of skin hypopigmentation, papular hypopigmented and herniated skin lesions reminiscent of FDH most prominent over her face, head, hands, and feet was evident. brain magnetic resonance imaging (MRI) showed polymicrogyria (most severely in the perisylvian and mesial frontal regions), enlarged left lateral ventricle, partial agenesis of the corpus callosum, and optic nerve tumor on the right. Dermatopathologic examination of the skin lesions was consistent with basaloid follicular hamartomas. The skin and digit anomalies observed overlap with FDH, but polymicrogyria, basaloid follicular hamartomas, optic nerve tumor, and morning glory anomaly have not previously been described in FDH. skin defects in MLS are linear and the eyes typically have sclerocornea. Polymicrogyria has been described in OCCS, but not in any of the other three syndromes. The limb anomalies in TODP are reductions rather than polysyndactyly. skin defects are localized to the face, and digital fibromas usually occur. While significant overlap exists between all four of the syndromes discussed, we believe that the constellation of anomalies observed in this girl most likely comprises a newly recognized syndrome.
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ranking = 1.3438382395941
keywords = dermal hypoplasia, focal dermal hypoplasia, hypoplasia, focal
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13/58. Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance.

    Oculodentodigital dysplasia (ODDD) is a rare inherited disorder affecting the development of the face, eyes, teeth, and limbs. The majority of cases of ODDD are inherited as an autosomal dominant condition. There are few reports of probable autosomal recessive transmission. Affected patients exhibit a distinctive physiognomy with a narrow nose, hypoplastic alae nasi, and anteverted nostrils, bilateral microphthalmos, and microcornea. Sometimes iris anomalies and secondary glaucoma are present. There are malformations of the distal extremities such as syndactyly. In addition, there are defects in the dental enamel with hypoplasia and yellow discoloration of the teeth. Less common features include hypotrichosis, intracranial calcifications, and conductive deafness secondary to recurrent otitis media. We describe three brothers with ODDD. Their parents are first cousins and present no features of ODDD. These data are in favor of autosomal recessive inheritance and suggest genetic heterogeneity for this entity.
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ranking = 0.0018538611869745
keywords = hypoplasia
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14/58. Combined chemotherapy and teratogenicity.

    BACKGROUND: The concomitant occurrence of breast cancer and pregnancy is relatively uncommon. We report the case of a patient with syndactyly, cleft hands, and absence of distal finger phalanges associated with maternal exposure to chemotherapeutic agents during the first trimester of pregnancy. These associations have not been previously described. CASE: The patient was born by normal delivery after 38 weeks of pregnancy. His mother became pregnant while receiving chemotherapy (cyclophosphamide, 5-fluorouracil, and adriamycin) for breast cancer, and the fetus was exposed to these drugs from conception to the 16th week of pregnancy. At birth, anomalies were observed, including a high-arched palate, microcephaly, a flat nasal bridge, bilateral syndactyly in the first and second fingers with a hand cleft between the second and third fingers and hypoplasia of the fifth fingers, and dystrophic nail of the fourth finger of the left hand. The patient's growth and development were deficient. CONCLUSIONS: The malformations associated with in utero exposure to these chemotherapeutic agents are highly variable, but growth deficiency and anomalies of the craniofacial region and limbs are the most common. The pattern of malformations in children who were congenitally exposed to chemotherapeutic agents appears to be directly related to the age at and duration of exposure, rather than to the specific drug itself. Effective contraception is essential for the safe use of a potential teratogen in nonpregnant women of reproductive age.
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ranking = 0.0018538611869745
keywords = hypoplasia
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15/58. focal dermal hypoplasia: oral and dental findings.

    focal dermal hypoplasia/Goltz Gorlin syndrome is a rare syndrome characterized by widespread dysplasia affecting tissues of mesodermal and ectodermal origin with cutaneous, osseous, ocular, oral and dental defects. Enamel hypoplasia is the most commonly reported dental manifestation and has recently been described as a possible manifestation of Lyonisation. This article reviews the reported dental findings and reports a new case with typical findings of focal dermal hypoplasia, which has been under review on our department for 10 years. It discusses the differential diagnosis as well as newer concepts of aetiology and pathogenesis in relation to dental anomalies. Enamel hypoplasia may make plaque control difficult, resulting in generalized gingivitis. hand anomalies may limit dexterity and exacerbate this. From the dental standpoint we emphasize the implementation of timely preventive and/or therapeutic strategies. Since there are periods of exacerbation during the course of this syndrome, regular surveillance from an early age with the frequency of visits increasing during and after adolescence is indicated. The role of the dentist in improving aesthetics and function can have tremendous psychological impact to enhance self-esteem of such patients.
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ranking = 1.0037077223739
keywords = dermal hypoplasia, focal dermal hypoplasia, hypoplasia, focal
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16/58. Paediatric phenotype of kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).

    kallmann syndrome characterised by hypogonadotropic hypogonadism (HH) and anosmia is genetically heterogeneous with X-linked, autosomal dominant and autosomal recessive forms. The autosomal dominant form due to loss of function mutation in the fibroblast growth factor receptor 1 (FGFR1) accounts for about 10% of cases. We report here three paediatric cases of kallmann syndrome with unusual phenotype in two unrelated patients with severe ear anomalies (hypoplasia or agenesis of external ear) associated with classical features, such as cleft palate, dental agenesis, syndactylia, micropenis and cryptorchidism. We found de novo mutation in these two patients (Cys178Ser and Arg622Gly, respectively), and one inherited Arg622Gln mutation with intrafamilial variable phenotype. These genotype-phenotype correlations indicate that paediatric phenotypic expression of FGFR1 loss of function mutations is highly variable, the severity of the oro-facial malformations at birth does not predict gonadotropic function at the puberty and that de novo mutations of FGFR1 are relatively frequent.
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ranking = 0.0018538611869745
keywords = hypoplasia
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17/58. ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs.

    Three females in a sibship of 10 have a syndrome of mental retardation, ectodermal dysplasia, and cleft lip and/or cleft palate. Inconstant features are congenital skin defects, areas of hyperpigmentation, congenital adhesions between the eyelids, cicatricial atrophy of the scalp, abnormal E.E.G., partial anodontia, genital hypoplasia, syndactyly, and delayed skeletal growth and maturation. The mode of inheritance could be either dominant with incomplete penetrance, or autosomal recessive. The disorder has overlapping features with several previously delineated syndromes but in view of certain novel features its relationship to these is uncertain.
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ranking = 0.0018538611869745
keywords = hypoplasia
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18/58. triploidy syndrome. A report on two live-born (69, XXY) and one still-born (69, XXX) infants.

    Two live-born cases, 69,XXY and one stillbirth, 69,XXX are reported. Further evidence is presented to delineate the triploidy syndrome. Common external and internal features which characterize the triploidy syndrome are low-set ears, hypertelorism, colobomata, syndactyly, simian creases, microphallus, undescended testes, scrotal aplasia, anomalous heart and hypoplasia of kidneys and adrenals. The triploidy syndrome encompasses features found in trisomies 13, 18 and 21. We suggest that the abnormal development of the triploidy infants is the result of the mentioned trisomies and their subsequent effect on the remaining genome.
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ranking = 0.0018538611869745
keywords = hypoplasia
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19/58. poland's syndrome.

    Forty-three consecutive cases of poland's syndrome were analyzed and the relevant literature was reviewed. The syndrome is not hereditary and is of unknown origin. It affects males more frequently than females. The clinical features are variable but always include congenital aplasia and syndactyly. The middle phalanges are hypoplastic or absent so that effectively there is only one interphalangeal joint. The syndactyly is usually incomplete and simple. It may involve all fingers and frequently includes the thumb, which then lies in the same plane as the fingers. poland's syndrome may also include hypoplasia of the nipple and breast, hypoplasia of the upper ribs, herniation of the lung, contracture of the anterior axillary web, and elevated scapula. The arm and more frequently the forearm are hypoplastic. The right side is more often affected than the left. Surgical treatment by separating the syndactyly is recommended. In some cases a digit is removed to produce a three-fingered hand. Surgery is initiated by the age of one year and is completed by the time the child enters school, although periodic revisions may be necessary. Although the hand remains hypoplastic and functional capacity is limited by the inherent skeletal anomalies, surgical treatment improves functional capacity and cosmetic appearance in the majority of patients.
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ranking = 0.003707722373949
keywords = hypoplasia
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20/58. A postaxial polydactyly-dental-vertebral syndrome.

    Three patients with postaxial polydactyly and other abnormalities of the hands and feet, hypoplasia and fusion of the vertebral bodies, and dental abnormalities are reported. Two were sisters born to normal unrelated parents; the other patient was the male offspring of a consanguineous marriage. We suggest that this constellation of abnormalities represents a recessively inherited syndrome.
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ranking = 0.0018538611869745
keywords = hypoplasia
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