1/16. SPONASTRIME dysplasia: report of an 11-year-old boy and review of the literature.SPONASTRIME (SPOndylar and NAsal changes, with STRIations of the MEtaphyses) dysplasia is a rare, autosomal recessive bone disorder first described by Fanconi et al. [1983: Helv Paediatr Acta 38:267-280]. Radiographic findings include abnormal vertebral bodies with age-dependent changes, and striations of the metaphyses, scoliosis, and retarded ossification of the carpal bones. Physical features include severe short stature, lumbar lordosis, midface hypoplasia, frontal bossing, and a depressed nasal root. To date, 12 patients from 6 families have been reported. Four additional patients have been reported with a variant of this condition, which includes mental retardation. We report on an 11-year-old boy with features consistent with SPONASTRIME dysplasia. Height was 106.1 cm (-6 SD). He had a coarse appearing face with a depressed nasal bridge, short, upturned nose, and midface hypoplasia. intelligence was normal. A clinical evaluation at 6 years of age suggested the diagnosis of spondyloepiphyseal dysplasia (SED). However, genetics evaluation at 11 years of age with repeat radiologic studies revealed delayed carpal ossification (-4 to -5 SD), metaphyseal irregularities and striations most notably in the distal femurs and the proximal tibias, lumbar lordosis, narrow interpedicular distances of the lumbar spine, and pear-shaped vertebral bodies. These findings were most consistent with the diagnosis of SPONASTRIME dysplasia, and not SED. Although radiographic findings of SPONASTRIME dysplasia are distinguishable from SED, the physical appearance may be similar. Many bone dysplasias have overlapping radiographic findings and clinical presentation but with different recurrence risks, making genetic counseling a challenge.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/16. Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.The fibroblast growth factor-receptor 3 (FGFR3) Lys650 codon is located within a critical region of the tyrosine kinase-domain activation loop. Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met]). Other mutations within the FGFR3 tyrosine kinase domain (e.g., C1620A or C1620G [both resulting in Asn540Lys]) are known to cause hypochondroplasia, a relatively common but milder skeletal dysplasia. In 90 individuals with suspected clinical diagnoses of hypochondroplasia who do not have Asn540Lys mutations, we screened for mutations, in FGFR3 exon 15, that would disrupt a unique BbsI restriction site that includes the Lys650 codon. We report here the discovery of three novel mutations (G1950T and G1950C [both resulting in Lys650Asn] and A1948C [Lys650Gln]) occurring in six individuals from five families. Several physical and radiological features of these individuals were significantly milder than those in individuals with the Asn540Lys mutations. The Lys650Asn/Gln mutations result in constitutive activation of the FGFR3 tyrosine kinase but to a lesser degree than that observed with the Lys540Glu and Lys650Met mutations. These results demonstrate that different amino acid substitutions at the FGFR3 Lys650 codon can result in several different skeletal dysplasia phenotypes.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/16. Marfanoid habitus, dysmorphic features, and web neck.Bilateral pneumothoraces and aortic dilatation developed in a 25-year-old white man with marfanoid habitus, dysmorphic features, web neck, and intellectual impairment. He had physical features suggestive of Shprintzen-Goldberg syndrome. We review the common characteristics of Marfan and Shprintzen-Goldberg syndromes and compare them with our case. physicians should beware of potential cardiovascular abnormalities in patients with marfanoid habitus and dysmorphic features.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/16. trisomy 8 syndrome.trisomy 8 syndrome, with or without mosaicism, is characterized by the following clinical signs and symptoms: mental retardation, deformed skull, prominent forehad, high-arched palate, low-set and/or dysplastic ears, long and slender trunk, reduced joint mobility, and deep plantar furrows. The deep furrow or longitudinal crease of the sole may be pathognomonic for the syndrome. It should be noted that it has been seen in other rare syndromes. It is recommended that a child with mental retardation and associated multiple anomalies should be subjected to a cytogenetic study in order to define the incidence of this syndrome. Differnetial diagnosis should include: Fong's syndrome, arthrogryposis and otopalato-digital syndrome. It is interesting to note that there seem to be individuals who have had no physical abnormalities and have been identified during an evaluation for repeated abortions. The above described case of trisomy 8 mosaicism was seen and treated for many years by many different specialists without an accurate diagnosis.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/16. The hajdu-cheney syndrome. Report of two cases and review of the literature.The hajdu-cheney syndrome includes short stature, characteristic facies, and a slowly progressive skeletal dysplasia which affects skull, spine, and long bones. Two patients with this syndrome are presented. In the first patient the most distinctive skeletal feature, acro-osteolysis, was shown to be absent at age 6 years but was present at age 11 years. Diagnosis was made in the second case in the absence of acroosteolysis because of otherwise typical findings. Abnormalities affecting vision, hearing, and dentition occur and these, along with the other characteristic physical and radiographic features of the syndrome, should enable diagnosis prior to the onset of acro-osteolysis.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/16. Prenatal ultrasonographic diagnosis of diastrophic dysplasia at 13 weeks of gestation.Diastrophic dwarfism is a skeletal dysplasia that can be identified by ultrasound usually during the second trimester of pregnancy. This severe but non-lethal disorder of the cartilage can be diagnosed earlier using transvaginal sonography (TVS). We present a case of diastrophic dysplasia diagnosed at 13 weeks of gestation by TVS. The early TVS evaluation of the fetal biometric parameters and the accurate study of the morphological features of the fetal long bones and extremities allowed an early diagnosis of this rare pathology that leads to a progressive physical handicap, due mainly to severe kyphoscoliosis and arthropathies. Recently, the routine use of TVS at 11-14 weeks of gestation has permitted an earlier diagnosis to be reached of a great number of congenital anomalies. patients at risk for skeletal dysplasia could benefit from the enhancements of ultrasound techniques. An early diagnosis of diastrophic dysplasia can be reached at the and of the first trimester of pregnancy, using TVS.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/16. Imaging rounds #110. osteopetrosis.The following case is presented to illustrate the roentgenographic and clinical findings of a condition of interest to the orthopaedic surgeon. Initial history, physical findings, and roentgenographic examinations are found on this page. The next page presents the final clinical and roentgenographic differential diagnosis.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/16. 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 = 1keywords = physical (Clic here for more details about this article) |
9/16. Pseudodiastrophic dysplasia: a distinct newborn skeletal dysplasia.Pseudodiastrophic dysplasia is a distinct disorder that differs from diastrophic dysplasia on the basis of clinical, radiographic, and chondro-osseous histopathologic findings. In addition to the rhizomelic shortening of the limbs and severe clubfoot deformity, which suggest the diagnosis of diastrophic dysplasia, distinguishing features are elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis, which are observed in infancy. This disorder has been reported previously in three infants, all of whom died in the first year of life. Two of these were sisters, suggesting autosomal recessive inheritance. We report four new patients with this distinct skeletal dysplasia, including two children now older than 4 years of age. In both of these patients neonatal contractures have improved with physical therapy and scoliosis has progressed significantly.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
10/16. Cervical spinal deformity in craniometaphyseal dysplasia.A child with craniometaphyseal dysplasia had the presenting symptoms of progressive quadriparesis. She exhibited proportionate tall stature, peculiar face with craniomegaly, genu valgum, and 46,XX,t(12;18)(q13;q12) chromosome aberration. Delayed physical development and mild mental retardation were also present. Subluxation of C-2 on C-3 and kyphosis of the cervical spine, and myelographic blockage at this level were noted. Treatment consisted of fusion of the C-2 to C5-6 vertebra following laminectomies of C-3 and C-4 with satisfactory results. Early detection and surgery for cervical spine deformity and cord compression are necessary to prevent profound neurological deficits in this disorder.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
| | Next -> |