Hand-foot-genital syndrome - analysis of two cases.

Hand-food-genital syndrome (HFGS) is a rare genetic condition. This report describes the cases of two patients, aged 33 and 15, presenting related somatic abnormalities. HFGS stems from an autosomal anomaly linked to the HOXA 13 gene. Therapeutic procedures are discussed in order to identify the best treatment approach to the patients, as well as possible conditioning genetic anomalies.

Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.

The acrofacial dysostoses (AFD) are a genetically heterogeneous group of inherited disorders with craniofacial and limb abnormalities. Rodriguez syndrome is a severe, usually perinatal lethal AFD, characterized by severe retrognathia, oligodactyly and lower limb abnormalities. Rodriguez syndrome has been proposed to be a severe form of Nager syndrome, a non-lethal AFD that results from mutations in SF3B4, a component of the U2 small nuclear ribonucleoprotein particle (U2 snRNP). Furthermore, a case with a phenotype intermediate between Rodriguez and Nager syndromes has been shown to have an SF3B4 mutation. We identified heterozygosity for SF3B4 mutations in Rodriguez syndrome, confirming that the phenotype is a dominant disorder that is allelic with Nager syndrome. The mutations led to reduced SF3B4 synthesis and defects in mRNA splicing, primarily exon skipping. The mutations also led to reduced expression in growth plate chondrocytes of target genes, including the DLX5, DLX6, SOX9, and SOX6 transcription factor genes, which are known to be important for skeletal development. These data provide mechanistic insight toward understanding how SF3B4 mutations lead to the skeletal abnormalities observed in the acrofacial dysostoses.

Resultados da correção da sindactilia na mão com a técnica de Skoog / Results of the correction of syndactyly of the hand by using Skoog's technique

Introdução: A sindactilia é uma anomalia congênita comum da mão, tem incidência de aproximadamente um em 2.000 nascimentos, predomínio no sexo masculino e é bilateral em 50% dos casos. Objetivo é descrever uma série de casos de pacientes com sindactilia nas mãos, operados no Hospital Sarah Brasília, com a técnica de Skoog modificada e o uso de órtese. Métodos: Realizou-se a técnica de Skoog modificada para correção de sindactilia. No pós-operatório, foi confeccionada órtese punho-mão e dedos, e procedeu-se à avaliação do resultado da cicatriz conforme a Escala de Vancouver. Resultado: Durante cinco anos, avaliaram-se 45 pacientes, sendo 30 (66%) homens e 15 mulheres, com idade de um a quatro anos (média de dois anos - 60%), 37% dos casos mostraram-se associados a síndromes, 50% eram simples e bilateral. As complicações observadas nas sindactilias simples foram encontradas em 8% dos pacientes e caracterizaram-se por retração cicatricial, cicatriz visível e alteração ungueal; três casos (6%) foram reoperados para liberação de retração cicatricial com zetaplastia e confecção de neocomissura e quatro casos demandaram realinhamento digital, observado nas sindactilias complexas. Conclusão: Com esta técnica, obtiveram-se 92% de resultados funcionais, 8% de complicações relacionadas à técnica cirúrgica e três reoperações para liberação de retração cicatricial, por meio de zetaplastia e aprofundamento da comissura com novo retalho e enxerto de pele Em relação à avaliação quanto à Escala de Vancouver, o item predominante foi a pigmentação existente entre os dedos devido ao enxerto de pele.

Introduction: Syndactyly is a congenital anomaly of the hand, occurring in approximately 1 in every 2000 births. It is more common in male patients and is present in both hands in 50% of the cases. The objective of this study was to describe a series of cases of patients with hand syndactyly, operated at the Sarah Hospital in Brasília using modified Skoog's technique and orthosis. Methods: The modified Skoog's technique was performed to correct syndactyly. Wrist-hand and finger orthosis was applied postoperatively, and the appearance of the scar was assessed according to the Vancouver Scar Scale. Results: Forty-five patients were assessed during five years, of whom 30 (66%) were male and 15 were female, all aged between 1 and 4 years (mean age: 2 years [60%]); 37% of cases were associated with syndromes and 50% were simple bilateral cases. Complications observed in simple syndactyly occurred in 8% of patients and included scar retraction, visible scars, and ungual changes; three patients (6%) underwent revision surgery with z-plasty and confection of a new web space commissure to correct scar retraction, and four patients required finger realignment, observed in complex syndactyly. Conclusion: This technique resulted in 92% good functional outcomes, 8% complications associated with the surgical technique, and three revision procedures with z-plasty and confection of the web space commissure with a new flap and skin graft to correct scar retraction. The Vancouver scale was used to assess scar quality, and pigmentation between the fingers (due to skin graft) had the highest score.

Vohwinkel syndrome, ichthyosiform variant--by Camisa--case report.

Vohwinkel syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant palmoplantar keratosis, which manifests in infants and becomes more evident in adulthood. Its mode of inheritance is autosomal dominant with mutation in loricrin and Connexin 26 genes. Patients with this mutation present hyperkeratosis of the palms and soles, constricting bands of the digits, usually on the fifth, and starfish-shaped hyperkeratosis on the dorsal aspects of the hands and feet. The disease mostly occurs in white women, where constricting fibrous bands appear on the digits and can lead to progressive strangulation and auto-amputation (pseudo-ain-hum).The authors report a rare case of a patient with a clinical ichthyosiform variant of Vohwinkel syndrome.

Vohwinkel syndrome, ichthyosiform variant - by Camisa - Case report / Sindrome de Vohwinkel, variante ictiosiforme - de Camisa - Relato de caso

Vohwinkel syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant palmoplantar keratosis, which manifests in infants and becomes more evident in adulthood. Its mode of inheritance is autosomal dominant with mutation in loricrin and Connexin 26 genes. Patients with this mutation present hyperkeratosis of the palms and soles, constricting bands of the digits, usually on the fifth, and starfish-shaped hyperkeratosis on the dorsal aspects of the hands and feet. The disease mostly occurs in white women, where constricting fibrous bands appear on the digits and can lead to progressive strangulation and auto-amputation (pseudo-ain-hum).The authors report a rare case of a patient with a clinical ichthyosiform variant of Vohwinkel syndrome.

A síndrome de Vohwinkel ou queratodermia hereditária mutilante é uma queratose palmo-plantar rara, autossômica dominante, que se manifesta em crianças e se torna mais evidente na vida adulta. Seu modo de herança é autossômica dominante com mutação na loricrina e no gen da Conexina 26. Os pacientes com esta mutação apresentam hiperqueratose das palmas das mãos e plantas dos pés, com bandas constritivas dos dígitos, normalmente no quinto dedo e hiperqueratose em forma de estrela do mar nas regiões dorsais das mãos e dos pés. A doença ocorre principalmente em mulheres brancas, onde as bandas constritivas fibrosas aparecerem nos dígitos e podem levar ao estrangulamento progressivo e auto-amputação (pseudo-ainhum).Os autores relatam o caso de uma variante ictiosiforme da síndrome de Vohwinkel.

Richieri-costa and Pereira syndrome: severe phenotype.

Richieri-Costa and Pereira syndrome, described in 1992, comprises short stature, Robin sequence, cleft mandible, limb malformations, and short larynx, deformed or lack of epiglottis, and abnormal aryepiglottic folds. There are 32 reported cases, only one described outside Brazil. We describe a 4-month-old boy with the most severe phenotype yet reported.

Laryngeal malformation in Richieri-Costa Pereira syndrome: new findings.

Laryngeal structural anomalies were described in 13 cases of Richieri-Costa Pereira syndrome, and four previously reported cases were reviewed. The 17 individuals examined had the typical laryngeal anomalies and vocal disorders previously described. The new findings are the laryngeal microweb observed in three cases and arytenoid anteriorization movement observed in 14 cases.

Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome.

Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, hypertrichosis, intellectual disability, and absence and/or hypoplasia of the nails or terminal phalanges of the hands and feet. The syndromic features of ZLS are highly variable and can overlap with other entities featuring gingival fibrosis. This study describes a patient with ZLS with novel findings, including colpocephaly, hemivertebra, polydactyly, hyperpigmentation, and hemihyperplasia. Thus, the present report expands the phenotypic spectrum of this uncommon syndrome.

Bilateral ectrodactyly and spinal deformation in a mixed-breed dog.

A 3-year-old, female mixed-breed dog had malformations of both thoracic limbs and the vertebral column. Radiographs of the forelimbs showed bilateral development of 2 digits and aplasia of 3 carpal bones. Kyphosis, scoliosis, and deformed vertebrae were present in the thoracolumbar vertebral column.

The Richieri-Costa and Pereira syndrome: report of two Brazilian siblings and review of literature.

Richieri-Costa and Pereira syndrome is a rare autosomal recessive disorder characterized specially by Pierre Robin sequence with cleft mandible and limb anomalies. There are a typical laryngeal anomaly which encompass short and round larynx, absent or abnormal epiglottis, and abnormal aryepiglottic folds. Most patients reported were from Brazil. We describe a brother and sister with Richieri-Costa and Pereira syndrome on another Brazilian family documenting their physical findings and laryngeal defects. We also review the literature and discuss the main clinical characteristics and etiology.

Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases.

We reported on 16 new Brazilian patients and review findings in 12 previously reported cases (25 apparently unrelated Brazilian families) from Hospital of Rehabilitation of Craniofacial Anomalies, presenting with Richieri-Costa-Pereira syndrome. All patients display a unique pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of mandible, cleft palate/Robin sequence, absence of central lower incisors, minor ears anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability was also a common finding. The sex-ratio showed deviation toward to female (1.8F:1M). Recurrence in sibs was observed in nine instances and consanguinity in 11, supporting the hypothesis of autosomal recessive inheritance. Nineteen of the 25 families lived in São Paulo State, seven of them (10 affected individuals) from an isolated region named "Vale do Ribeira." The geographic barrier of this region associated with the high incidence of the consanguineous matting suggested that this condition is caused by a rare mutation with a founder effect. With the exception of one patient in France, all known cases are of Brazilian origin. The causative gene of this rare syndrome remains unknown.

Interstitial deletion of 13q22-->q31: case report and review of the literature.

In the present study we describe a patient with characteristic brachydactily, developmental delay and interstitial del 13q22-->q31. After the review of the literature, few cases sharing similar chromosomal deletions were found and they displayed little resemblance with our patient. We discuss the phenotype correlation among the deleted regions in such cases.

van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures.

Here, we report on a Venezuelan child with manifestations of van den Ende-Gupta syndrome, including blepharophimosis, arachnodactyly, and congenital contractures. We also review cases from the literature.

Isolated ectrodactyly caused by a heterozygous missense mutation in the transactivation domain of TP63.

We report a Mexican boy with isolated ectrodactyly (split hand malformation) in whom a new mutation was identified in exon 3 of the TP63 gene. In contrast to previously reported patients with isolated split hand/foot anomaly and mutations in the DNA binding domain of Tp63, the mutation described herein induce an amino acid substitution (R97C) in the canonical transactivation (TA) domain. To our knowledge, this is the first naturally occurring mutation described so far in this part of the protein. Based on the genotype-phenotype correlation observed in our patient, we hypothesize that integrity of the TA domain of Tp63 is critical for normal limb development.

Probable new syndrome in a Mexican family with congenital palmar polyonychia and postaxial limb defects.

Congenital palmar polyonychia (CPP) is a rare and usually sporadic birth defect. We report on a Mexican girl with CPP of both 5th fingers and her sister with ectrodactyly with ulnar ray deficits and agenesis of the ulna. In previous reports, CPP has been seen in ectrodactyly with involvement of the ulna and ulnar digital rays and with postaxial polydactyly. Such findings observed in our patients can be considered a form of CPP. Autosomal dominant inheritance of CPP is more likely based in previous informative families with vertical transmission and instances of male-to-male transmission. The present and two previous families with affected sibs only may represent parental gonadal mosaicism, whereas de novo mutation or incomplete evaluation of relatives could be an explanation for sporadic cases. Variable expression of the CPP phenotype may be a new autosomal dominant entity, i.e., a CPP-postaxial limb defect syndrome.

Semilobar holoprosencephaly, coronal craniosynostosis, and multiple congenital anomalies: a severe expression of the Genoa syndrome or a newly recognized syndrome?

We report on a female newborn with holoprosencephaly, craniosynostosis, and multiple congenital anomalies including cloverleaf skull, Dandy-Walker malformation, bilateral microphthalmia, cleft soft palate, congenital scoliosis, hypoplastic nails and coarctation of aorta. Some of these features are consistent with the diagnosis of the Genoa syndrome, (MIM 601370) a rare autosomal recessive disorder recently described. The findings of other serious and previously undescribed malformations, however, raises the possibility of a newly recognized disorder.

Alteraçöes esqueléticas da mäo na picnodisostose / Skeletal features in the hands in pycnodysostosis

Em três pacientes com picnodisostose que apresentavam alteraçoes esqueléticas nas maos, no exame clínico encontraran-se encurtamento da mao, enrugamento da pele e hipoplasia das unhas. O exame radiográfico revelou aumento de densidade óssea, encurtamento das falanges médias e afilamento das extremidades distais da falange distal.