1/23. Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation.Monozygotic twin brothers are described who share clinical features which include: moderate mental retardation, short stature, macrocephaly, frontal bossing, ptosis, low-set ears, brachydactyly, 5th fingers clinodactyly, single palmar creases, cryptorchidism, and prelingual sensorineural deafness. One of the twins presented with mild cardiac dilatation and died at age 3(1/2) from cardiac arrest during an episode of acute respiratory infection. While chromosome analyses performed for both twins on peripheral blood showed apparently normal karyotypes, screening for all telomeric regions on the surviving propositus revealed a combination of partial 6p trisomy and partial 11q monosomy. A balanced reciprocal translocation was found in the father. The phenotype of the twins is most likely related to this cryptic chromosomal rearrangement. The fact that the phenotype in this family partially overlaps with some previously reported phenotypes is discussed.- - - - - - - - - - ranking = 1keywords = brachydactyly (Clic here for more details about this article) |
2/23. Van der Woude syndrome with sensorineural hearing loss, large craniofacial sinuses, dental pulp stones, and minor limb anomalies: report of a four-generation Thai family.A four-generation Thai family affected with Van der Woude syndrome is reported. The disorder appeared to be originally inherited from a person who was half Thai and half Pakistani. The lip lesions found in this family were varied and did not appear to be related to other phenotypes. There were some clinical manifestations possibly specific for the condition in this family. They included sensorineural hearing loss, prominent frontal bone, large frontal/sphenoidal/maxillary sinuses with increased mastoid air cells, long tooth roots, dental pulp stones, ankyloglossia, brachydactyly of hands, brachyphalangy, and hyperphalangy of toes, and single flexion crease of the fifth fingers. fluorescence in situ hybridization analysis revealed no visible deletion at a 1q32-41 region.- - - - - - - - - - ranking = 0.2keywords = brachydactyly (Clic here for more details about this article) |
3/23. The Saethre-Chotzen syndrome.The Saethre-Chotzen Syndrome (SCS) is characterized by craniosynostosis, low-set frontal hairline, parrot-beaked nose with deviated septum, ptosis of the eyelids, strabismus, refractive error, tear duct stenosis, dystopia canthorum, brachydactyly and abnormal dermatoglyphic patterns. The syndrome follows an autosomal dominant mode of transmission with complete penetrance and variable expressivity. Many cases of SCS have been previously reported but erroneously diagnosed as Crouzon syndrome, "pseudo-Crouzon" syndrome, simple craniosynostis, microcephaly or other inappropriate diagnostic category. Based on the findings in 6 kindreds with 31 affected individuals and an analysis of well-documented cases from the literature, the syndrome is delineated. Close attention to minor skeletal anomalies and "incidental" findings is emphasized.- - - - - - - - - - ranking = 0.2keywords = brachydactyly (Clic here for more details about this article) |
4/23. Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome.We report a child with a de novo interstitial deletion, 46,XY, int del(9)(9q22.31-q31.2). Cytogenetic and molecular analysis defined the boundaries of the lost region, of paternal origin, from D9S1796 to D9S938. The clinical picture included macrocephaly, frontal bossing, bilateral epicanthus, down-slanted palpebral fissures, low-set ears, hypoplastic nostrils, micrognathia, scoliosis, right single palmar crease, small nails, slender fingers, bilaterally flexed 5th finger, delayed bone age, abnormal metacarpophalangeal pattern (MCPP) profile and sole pits. No major malformation was recorded. The deleted region includes, among others, the PTCH and ROR2 genes. Mutations of the former cause the nevoid basal cell carcinoma syndrome (NBCCS) while mutations in the ROR2 gene have been found both in Robinow syndrome and in brachydactyly type 1B (BDB1). As the patient shows some clinical manifestation of both syndromes, we conclude that phenotypic changes related to haploinsufficiency of PTCH and ROR2 are recognisable in our patient even at a young age and in the presence of the more complex phenotype due to the deletion's large size. Thus the efforts to identify the genes included in a deletion are worthy as they may result in better care of the patient as, in this case, monitoring the possible development of tumours associated with NBCCS.- - - - - - - - - - ranking = 1keywords = brachydactyly (Clic here for more details about this article) |
5/23. Grebe dysplasia and the spectrum of CDMP1 mutations.We report on a 4-year-old boy with the typical phenotype of Grebe dysplasia born to consanguineous parents. The father seems to be unaffected; the mother presents with brachydactyly type C (BdC). PCR amplification and sequencing of the cartilage-derived morphogenetic protein 1 (CDMP1) gene of the parents led to the identification of a heterozygous insertion of a single G at nucleotide 206. The mutation that causes frameshift and premature termination is predicted to result in functional haploinsufficiency. The child is homozygous for the insertion (insG206). The phenotypic spectrum of this loss-of-function mutation ranges from normal or BdC in heterozygotes to Grebe-type chondrodysplasia in the homozygously affected and seems to be due to CDMP1 gradient effects during pattern formation. A dominant negative action on other bone morphogenetic proteins is unlikely to cause the severe disruption of skeletogenesis seen in this case of Grebe dysplasia.- - - - - - - - - - ranking = 0.2keywords = brachydactyly (Clic here for more details about this article) |
6/23. Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia?We present a 27-year-old girl with short trunk stature, generalized rectangular platyspondyly and strike precocious calcification of costal cartilage. She had also brachydactyly, small nails, strabismus and delay of menarche. Her 16-year-old sister had also short trunk stature with severe kyphoscoliosis, hearing loss, brachydactyly, platyspondyly and mild precocious calcification of costal cartilages. Their 12-year-old brother had short trunk stature, kyphoscoliosis, brachydactyly, and platyspondyly but did not show precocious calcification of costal cartilage. The patients shared the following features: short trunk stature, brachydactyly, severe rectangular platyspondyly, broad and short femoral necks and hypoplasia of the ileum. In addition, the older sister had strike precocious calcification of costal cartilage while her sister and brother had severe kyphoscoliosis. Although short trunk stature and severe rectangular platyspondyly without significant epiphyseal or metaphyseal changes were in favor of Hobaek type brachyolmia, this diagnosis was not considered, both because, there were no specific radiological findings of this syndrome, such as elongated vertebral bodies extending beyond the pedicles laterally and all of the patients had brachydactyly which was not present in Hobaek type brachyolmia. The parents were healthy and first cousins signifying autosomal recessive inheritance. We considered that the patients could be affected by a new distinct autosomal recessive type brachyolmia or a new skeletal dysplasia.- - - - - - - - - - ranking = 1.8keywords = brachydactyly (Clic here for more details about this article) |
7/23. Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis.A three-generation family presenting with ocular developmental abnormalities, including anterior segment dysgenesis and coloboma, associated with brachydactyly and clinodactyly is presented. Several conditions incorporating ocular and bony limb abnormalities have been described. However, we believe that this family manifests a previously undescribed syndrome due to autosomal dominant or possibly x-linked inheritance with variable expression.- - - - - - - - - - ranking = 1keywords = brachydactyly (Clic here for more details about this article) |
8/23. A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies.We present a patient with acromesomelic chondrodysplasia and genital anomalies caused by a novel homozygous mutation in BMPR1B, the gene coding for bone morphogenetic protein receptor 1B. The 16 year old girl, the offspring of a multiconsanguinous family, showed a severe form of limb malformation consisting of aplasia of the fibula, severe brachydactyly, ulnar deviation of the hands, and fusion of carpal/tarsal bones. In addition, she presented with hypoplasia of the uterus and ovarian dysfunction resulting in hypergonadotrophic hypogonadism. mutation analysis of BMPR1B revealed a homozygous 8 bp deletion (del359-366). This mutation is expected to result in a loss of function and is thus different from the heterozygous missense mutations in BMPR1B recently shown to cause brachydactyly type A2 through a dominant negative effect. The patient's skeletal phenotype shows an overlap with the clinical spectrum of the acromesomelic chondrodysplasias of the Grebe, Hunter-Thompson, and DuPan types caused by homozygous mutations in the gene coding for growth differentiation factor 5 (GDF5) which is a high-affinity ligand to BMPR1B. However, the phenotype described here differs from GDF5 associated chondrodysplasias because of the additional presence of genital anomalies and the distinct limb phenotype.- - - - - - - - - - ranking = 0.4keywords = brachydactyly (Clic here for more details about this article) |
9/23. A female with angelman syndrome and unusual limb deformities.This report presents the case of a 13-year-old female with angelman syndrome caused by 15q11-13 microdeletion demonstrating unusual marked limb deformities with generalized osteoporosis, delayed bone age, and brachydactyly type B. The radiographs of her femur, tibia, fibula, ulna, and radius revealed curved deformities in the distal diaphysis-metaphysis areas and generalized osteoporosis. This can be explained by the patient's severe disability, delayed puberty, presumed nutritional and environmental deficits, or rickets. In addition, she had shortening of the distal phalanges of all fingers, the absence of some epiphyses of the distal phalanges, and hypertrophic and curved III metacarpal bones. These clinical findings could not be explained by classical rickets or osteoporosis, but can be classified as brachydactyly type B. To our knowledge, such marked limb deformities and brachydactyly have not previously been described in patients with angelman syndrome.- - - - - - - - - - ranking = 0.6keywords = brachydactyly (Clic here for more details about this article) |
10/23. brachydactyly with extrahepatic biliary atresia, patent ductus arteriosus and seizures--a new syndrome?brachydactyly is a relatively common congenital anomaly and can be associated with many other malformations. However, brachydactyly in association with biliary atresia is rare. We present a male child with strikingly symmetrical brachydactyly and nail hypoplasia, extrahepatic biliary atresia, patent ductus arteriosus, seizures, developmental delay and cataracts. This combination of features has not previously been described and we suggest that this case represents a new syndrome.- - - - - - - - - - ranking = 0.4keywords = brachydactyly (Clic here for more details about this article) |
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