1/15. Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal-spondyloperipheral dysplasia.Variable expression and penetrance of dominantly inherited disorders present problems in diagnosis and counseling. The variation in clinical findings within a family with an autosomal dominant skeletal dysplasia is presented. In some members only shortened metacarpals were found, as seen in classic brachydactyly E. Others presented with more severe and generalized skeletal involvement, such as is found in some of the spondyloepiphyseal dysplasias. This family may represent the true spectrum of brachydactyly E; they may be affected with a specific spondyloepiphyseal dysplasia; or they may represent a new syndrome. The authors favor the first possibility and feel that this family serves to emphasize the importance of examining all affected members in a kindred with an autosomal dominant disease.- - - - - - - - - - ranking = 1keywords = brachydactyly (Clic here for more details about this article) |
2/15. Uncombable hair syndrome with angel-shaped phalango-epiphyseal dysplasia.Uncombable hair syndrome or "cheveux incoiffables" is due to a characteristic longitudinal grooving of the hair shaft resulting in a triangular cross section (pili trianguli et canaliculi). In the majority of cases the abnormality is an isolated finding, although uncombable hair-type changes have been observed in conjunction with other features of ectodermal dysplasia. Ultrastructural studies in the latter have revealed more complex changes of the hair shaft, such as longitudinal grooving in combination with torsion, suggesting classification as a different entity. We describe a 6-year-old girl with typical "cheveux incoiffables," as confirmed by scanning electron microscopy, in combination with angel-shaped phalango-epiphyseal dysplasia. The relationship to a previously described syndrome of uncombable hair in combination with retinal dystrophy, juvenile cataract, and brachydactyly, in which both hair and skeletal abnormalities are common, remains to be further elucidated.- - - - - - - - - - ranking = 0.25keywords = brachydactyly (Clic here for more details about this article) |
3/15. Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome.We describe a new syndrome of distal limb anomalies and pigmentary skin defects in 10 females of a large, four-generation pedigree. The family was ascertained through a 4-month-old infant girl with multiple anomalies, including hypertelorism, iris colobomas, low-set ears, midface hypoplasia, punched-out pigmentary abnormalities over the face and scalp, generalized brachydactyly, and digital fibromatosis. No affected males were identified in this pedigree. Affected females had a lower than normal male-to-female ratio of liveborn offspring, and some of them also had a history of several miscarriages. These findings, together with a significant variability in the phenotype of the affected females, suggest that this condition is inherited in an X-linked dominant fashion, with prenatal male lethality, and that X-inactivation plays an important role in the phenotypic expression of the disease. The syndrome has been described twice in the literature, but only in sporadic cases; it was therefore not recognized as a mendelian entity. Because the most consistent findings are anomalies of the distal skeleton of the limbs and localized pigmentary abnormalities of the skin, we named the syndrome "terminal osseous dysplasia with pigmentary defects." This condition, though rare, can be added to the small group of male lethal X-linked dominant disorders in humans.- - - - - - - - - - ranking = 0.25keywords = brachydactyly (Clic here for more details about this article) |
4/15. Spondyloepiphyseal dysplasia Maroteaux type: report of three patients from two families and exclusion of type II collagen defects.Spondyloepiphyseal dysplasia (SED) Maroteaux type is an autosomal dominant skeletal dysplasia, characterized by spondylar dysplasia, mild epiphyseal dysplasia of the large joints, and type E-like brachydactyly. These manifestations overlap with those of spondyloperipheral dysplasia (SPD), in which a sporadic case with a mutation of COL2A1 has been reported. We report on three patients (an affected woman and her son and a sporadic case of an affected man) with SED Maroteaux type. The affected adults were severely short along with stubby hands and feet, and one developed myelopathy as a result of thoracolumbar gibbus. The affected child was mildly short at birth, and developed brachydactyly in early childhood. The radiological hallmarks of these patients included severe platyspondyly with square-shaped vertebral bodies, iliac hypoplasia, epiphyseal hypoplasia of the large joints, and strikingly short metacarpals and phalanges. These radiological findings appeared already apparent in early childhood. SED Maroteaux type was radiologically discriminative from SPD. brachydactyly was much severe in the former than in the latter, and spondylar dysplasia manifestation was different between both disorders. mutation screen by polymerase chain reaction-direct sequencing for all exons and their flanking regions of COL2A1 did not reveal any mutations in the three patients.- - - - - - - - - - ranking = 0.5keywords = brachydactyly (Clic here for more details about this article) |
5/15. Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature.An 11-year-old girl was seen with short stature, a head positioned in hyperextension, mild arched palate, prominent joints, limited elbow movements, hyperextensible wrists and fingers, brachydactyly, broad thorax, pectus carinatum, short trunk, a genu valgum, and flat feet. A radiographic skeletal survey revealed a generalized osteoporosis, platyspondyly, thoracic kyphoscoliosis, small and square iliac wings, short femoral necks, dysplastic epiphyses, flared metaphyses and brachydactyly with various carpal, metacarpal, and finger malformations. These features are very close to a very rare entity: the spondyloepimetaphyseal dysplasia (SEMD) of Maroteaux or "pseudo-Morquio" type II syndrome, whose specific radiological characteristics are found in this case.- - - - - - - - - - ranking = 0.5keywords = brachydactyly (Clic here for more details about this article) |
6/15. Angel-shaped phalanges in brachydactyly C: a case report, and speculation on pathogenesis.We describe a woman and her daughter affected by brachydactyly type C. The unusual feature in the child included the striking 'angel-shaped' appearance of the proximal phalanges of the index and middle fingers of one hand, whereas more typical triangular epiphyses with elongation of their radial side were present at the same location in the opposite hand. It is suggested that this peculiar phalangeal configuration occurs as a transitory event in early or mid childhood in phalanges that are marked by severe ossification delay, which is most prominent at the level of the primary ossification centre.- - - - - - - - - - ranking = 1.25keywords = brachydactyly (Clic here for more details about this article) |
7/15. New skeletal dysplasia with unique brachydactyly.We report on 2 male propositi, their mothers, and a maternal aunt with a new skeletal dysplasia associated with a unique pattern of digital malformation, variable mild short stature, and mild bowleg with proximal overgrowth of the fibula. The digital malformations comprise a pattern of brachydactyly which includes short, abducted thumbs, short index fingers, and markedly short, abducted great toes. The radiographic findings include hypoplastic thumbs and great toes with short first metacarpals and first metatarsals, absent distal phalanges of the index fingers and second toes, and coalescence of the carpal and tarsal bones. Radiographs of the long bones show mild metaphyseal and epiphyseal irregularity, tibial spurs, and relative elongation of the fibulae. The males are very similarly affected whereas the females show phenotypic variation and are generally less severely affected. The family histories from 2 fairly extensive pedigrees suggest X-linked dominant inheritance.- - - - - - - - - - ranking = 1.25keywords = brachydactyly (Clic here for more details about this article) |
8/15. A "new" skeletal dysplasia in two unrelated boys.We report on 2 unrelated boys with similar physical and radiographic findings that may represent a "new" skeletal dysplasia. Findings in common include early speech delay, short stature, frontal bossing with a depression over the metopic suture, a narrow nasal root with beaked nose, midfacial hypoplasia with relatively prominent eyes, and brachydactyly with blunt fingers. Radiographic findings include mild irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges with increased distal width, coning and sclerosis of several epiphyses, and overtubulation of the long bones. Although these patients share some manifestations with the floating-harbor syndrome (Robinson et al.: J Pediatr 113:703-706, 1988), their radiographic changes are distinctive and are not suggestive of a recognized skeletal dysplasia syndrome.- - - - - - - - - - ranking = 0.25keywords = brachydactyly (Clic here for more details about this article) |
9/15. Skeletal changes following growth hormone treatment in a child with combined hypopituitarism and a skeletal dysplasia.A child with combined hypopituitarism and an undefined skeletal dysplasia is described. The hypopituitarism was manifested by post-natal growth failure, excessive sc fat, micropenis, and poor growth hormone response to provocative tests. Disproportionately short limbs, especially distally, and skeletal radiographs showing generalized brachydactyly, cone epiphyses of the phalanges and ossification defects in the proximal femoral metaphyses characterized the skeletal dysplasia. In contrast to the normal structure of the endochondral growth plate seen in hypopituitarism, the growth plate in this child was structurally abnormal; there was no differentiation of chondrocytes into hypertrophic and degenerative cells. Treatment with hGH for 8 months was associated with the appearance of chondrocyte differentiation, the restoration of growth plate structure to almost normal and a substantial increase in growth rate. There was no change in his disproportion or improvement in his radiographic abnormalities. These observations suggest that hGH may influence growth plate structure in certain instances and that this may be associated with increased linear growth.- - - - - - - - - - ranking = 0.25keywords = brachydactyly (Clic here for more details about this article) |
10/15. Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly.We report the familial occurrence in a French Canadian family of metaphyseal dysplasia associated to short stature and previously undescribed facial and acral anomalies. Facial manifestations include beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth. Acral changes include bilateral shortness of metacarpal 5 and/or 2nd middle phalanx of fingers 2 and 5. dermatoglyphics show low TRC, distal or absent axial triradius, absent triradius C, and radial loop on digit 4. The syndrome appears to be an autosomal dominant trait.- - - - - - - - - - ranking = 1keywords = brachydactyly (Clic here for more details about this article) |
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