1/178. Homologous bone graft for expansion thoracoplasty in Jeune's asphyxiating thoracic dystrophy.adult tibial shaft from a bone graft bank was used as a solid homologous bone graft for midsternal expansion thoracoplasty in an infant with Jeune's asphyxiating thoracic dystrophy. The technique appeared successful, but the child grew out of her chest in her second year of life. Expansion thoracoplasty for Jeune's disease probably should only be reserved for children who survive their first year of life without major surgery.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
2/178. recurrence of fibrochondrogenesis in a consanguineous family.A second case of fibrochrondrogenesis in a consanguineous family is described. The fact that both sexes are affected in this family supports autosomal recessive inheritance.- - - - - - - - - - ranking = 3563.2571780862keywords = family (Clic here for more details about this article) |
3/178. Compound heterozygosity for the achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome.We report on a male newborn infant, a compound carrier of heterozygous mutations in the FGFR3 gene causing achondroplasia and hypochondroplasia. The mother has achondroplasia and carries the common G1138 (G380R) mutation in the FGFR3 gene; the father has hypochondroplasia due to the C1620A (N540K) mutation in the same gene. The fetus was found to carry both mutations diagnosed prenatally by amniocentesis at 17.6 weeks of gestation, following maternal serum screening which showed an increased risk for down syndrome (1:337). Detailed fetal ultrasound studies showed a large head, short limbs, and a small chest at 22 weeks of gestation. The changes were more severe than those of either achondroplasia or hypochondroplasia. The patient was born by cesarean section at 38 weeks of gestation and had rhizomelic shortness of the upper and lower limbs with excess skin folds, large head, enlarged fontanelles, frontal bossing, lumbar gibbus, trident position of the fingers, and a narrow chest with a horizontal line of demarcation at the narrowest area of the chest. Skeletal radiographs showed shortness of the long bones and flare of metaphyses. He had respiratory difficulties and was treated with nasal prongs. seizures developed on day 2 of life and recurred on day 9 and responded to treatment with phenobarbital. brain computed tomographic scan showed possible grey matter heterotopia, partial agenesis of the corpus callosum, and cortical dysplasia. To our knowledge, there are only two previously published cases of compound heterozygous achondroplasia-hypochondroplasia patients. The diagnosis was confirmed by dna mutation analysis of the FGFR3 gene in both cases.- - - - - - - - - - ranking = 0.5keywords = life (Clic here for more details about this article) |
4/178. Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantu syndrome.Cantu syndrome (hypertrichosis, osteochondrodysplasia, cardiomegaly) is a rare condition, previously reported in 13 patients. We report on two additional patients with this disorder. One of the patients had pulmonary hypertension of unknown cause which was responsive to steroid therapy. She also had unusual, deep plantar creases, not reported previously in Cantu syndrome. Autosomal recessive inheritance has been suggested previously on the basis of sib recurrence in one family and consanguinity in another. We have performed a segregation analysis based on all reported families to date; the data indicate autosomal recessive inheritance is unlikely. A new dominant mutation or microdeletion syndrome are more likely possibilities, sib recurrence possibly representing gonadal mosaicism.- - - - - - - - - - ranking = 593.8761963477keywords = family (Clic here for more details about this article) |
5/178. Sporadic case of trichorhinophalangeal syndrome type III in a European patient.Trichorhinophalangeal syndrome type III (TRP III) shares common traits with TRP I and II, including sparse hair, a "pear-shaped" nose, osteodysplasia with cone-shaped epiphyses, and autosomal dominant inheritance, but is distinguished by the presence of severe brachydactyly. TRP III was first described in 1984 in Japanese patients, one sporadic case [Sugio and Kajii, 1984: Am. J. Med. Genet. 19:741-753,1984] and two families [Niikawa and Kamei, 1986: Am. J. Med. Genet. 24:759-760; Nagai et al., 1994: Am. J. Med. Genet. 49:278-280], and more recently in a Turkish family [Itin et al., 1996: dermatology 193:349-352]. We report an additional observation in a patient of European descent, who presented with short stature, cone-shaped epiphyses, sparse hair, a pear-shaped nose, normal intelligence and severe brachydactyly. Neither parent had manifestations of TRP and there was no other reported case in the family, indicating a presumably fresh mutation. Our observation refines the clinical spectrum of TRP III in another ethnic background and may be of help in identifying the gene or genes for TRP syndromes.- - - - - - - - - - ranking = 1187.7523926954keywords = family (Clic here for more details about this article) |
6/178. Transtrochanteric curved varus femoral osteotomy for spondyloepiphyseal dysplasia tarda. A case report.A female with spondyloepiphyseal dysplasia (SED) tarda suffered bilateral hip pain since about the age of ten. Her radiographs revealed subluxation and irregularity of the hip joints with acetabular dysplasia. Transtrochanteric varus osteotomy was performed on her left femur at 13 years of age and on her right femur at 14 years of age. The congruities of both hips improved after surgery. At follow-up, she had no pain in either hip even after walking for an extended period. Improved activity in daily life was noted.- - - - - - - - - - ranking = 0.5keywords = life (Clic here for more details about this article) |
7/178. Spondylo-epimetaphyseal dysplasia: a new X-linked variant with mental retardation.A new X-linked variant of spondylo-epimetaphyseal dysplasia with distinctive phenotype and severe mental retardation in three boys of one family is reported. The children were normal at birth. After several months of normal development progressive physical disability and slow mental deterioration were observed. Extensive biochemical tests were normal. CONCLUSION: These patients represent a new form of X-linked spondylo-epimetaphyseal dysplasia.- - - - - - - - - - ranking = 593.8761963477keywords = family (Clic here for more details about this article) |
8/178. Clinical and radiological aspects in Melnick-needles syndrome.Melnick-needles syndrome is an X-linked dominant bone dysplasia, lethal in males, characterized by a typical facies and characteristic radiological findings: including sclerosis of skull base and mastoids. S-shaped appearance of tibia; cortical irregularities with a ribbon appearance of the ribs. About 48 well-documented cases have been reported, most of them were sporadic. Parental transmission has been published in only 11 kindreds. We are presenting the first Brazilian family with mother-daughter transmission. The proposita presented the typical clinical and radiological features with characteristic facies, severe thoracic cage restriction and pulmonary hypertension. Her mother was more mildly affected.- - - - - - - - - - ranking = 593.8761963477keywords = family (Clic here for more details about this article) |
9/178. A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia.Blomstrand osteochondrodysplasia (BOCD) is a rare lethal skeletal dysplasia characterized by accelerated endochondral and intramembranous ossification. Comparison of the characteristics of BOCD with type I PTH/PTH-related peptide (PTHrP) receptor-ablated mice reveals striking similarities that are most prominent in the growth plate. In both cases, the growth plate is reduced in size due to a strongly diminished zone of resting cartilage and the near absence of columnar arrangement of proliferating chondrocytes. This overall similarity suggested that an inactivating mutation of the PTH/PTHrP receptor might be the underlying genetic defect causing BOCD. Indeed, inactivating mutations of the PTH/PTHrP receptor have been recently identified in two cases of BOCD. We describe here a novel inactivating mutation in the PTH/PTHrP receptor. sequence analysis of all coding exons of the type I PTH/ PTHrP receptor gene and complementary dna of a case with BOCD identified a homozygous point mutation in exon EL2 in which one nucleotide (G at position 1122) was absent. The mutation was inherited from both parents, supporting the autosomal recessive nature of the disease. The missense mutation resulted in a shift in the open reading frame, leading to a truncated protein that completely diverged from the wild-type sequence after amino acid 364. The mutant receptor, therefore, lacked transmembrane domains 5, 6, and 7; the connecting intra- and extracellular loops; and the cytoplasmic tail. Functional analysis of the mutant receptor in COS-7 cells and of dermal fibroblasts obtained from the case proved that the mutation was indeed inactivating. Neither the transiently transfected COS-7 cells nor the dermal fibroblasts responded to a challenge with PTH or PTHrP with a rise in intracellular cAMP levels, in sharp contrast to control cells. Our results provide further evidence that BOCD is caused by inactivating mutations of the type I PTH/PTHrP receptor and underscore the importance of this receptor in mammalian skeletal development.- - - - - - - - - - ranking = 0.5keywords = life (Clic here for more details about this article) |
10/178. X/Y translocation in a family with Leri-Weill dyschondrosteosis.An X/Y translocation associated with Leri-Weill dyschondrosteosis (LWD) was detected in a boy and in his mother. FISH analysis with specific probes for SHOX and SRY displayed no signal on the der(X), while one signal for SHOX was detected on the normal x chromosome in the mother, and one signal each for SHOX and SRY was detected on the normal y chromosome in the proband.- - - - - - - - - - ranking = 2375.5047853908keywords = family (Clic here for more details about this article) |
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