1/10. cholesterol metabolsim defect associated with Conradi-Hunerman-Happle syndrome.We present a 6-week-old black girl with Conradi-Hunerman-Happle syndrome (CHS). The mother had no past medical history of illness, and the pregnancy progressed normally to a spontaneous vaginal delivery at 36 weeks. There was no known significant family history. A diagnosis of chondrodysplasia punctata was made at birth from physical examination and X-ray findings. On physical examination at 6 weeks, a koala face, a saddle nose, and a right-sided cataract were noted (Fig. 1a,b). There was unilateral left-sided ichthyosis well demarcated at the midline, with whorled brown fine scale following Blashko's lines on the patient's right side. Orthopedic complications were bilateral but were more pronounced on the left side. There was bilateral shortening of the humerus, with polydactyly of the right hand, arachnodactyly of the left fingers, bilateral clubbing, and mild contractures of the feet. x-rays showed multiple calcifications along the spine, proximal and distal femoral epiphysis, and proximal humeral epiphysis (Fig. 2). The patient was treated with emollients (aquaphor) twice daily with continuing improvement in ichthyosis. The clubbed feet were treated with splinting and the polydactyly was corrected by surgery. ophthalmology was to follow the patient for her right-sided cataract. At the patient's 4-month follow-up, the ichthyosis showed a marked improvement with some residual hypo- pigmented atrophoderma noted. The distribution remained unchanged. Biopsies taken of ichthyotic lesions showed compact hyperkeratosis and follicular plugging. Vesicles within the stratum corneum contained amorphous material (Fig. 3a,b). The granular cell layer was thickened with retained oval nuclei. The epidermal and adnexal epithelium were disorganized. Increased apoptotic/dyskeratotic keratinocytes were seen within the epidermis, but were most evident within the follicular epithelium. Ultrastructural studies showed saccular dilations of the acellular space within the stratum corneum. These acellular spaces were filled with unprocessed lamellated pleated sheets and vesicle complexes and processed lamellae. Dyskeratotic cells were seen within the stratum spinosum. Red blood cell (RBC) plasmalogen levels and polyunsaturated fatty acids (PUFA), including decosahexaenoic acid (DHA), were within normal limits. plasma very long chain fatty acids (VLCFA), including C26 : 0/C22 : 0 ratios, phytanic and pristanic acids, plasmalogen, and phytanic/pristanic ratios, trihydroxycholestanic acid (THCA) and dihydroxycholestanoic acid (DHCA) including their ratios, THCA/cholic acid and DHCA/chenodeoxycholic acid, and PUFAs including DHA were within normal limits. urine organic acids and piecolic acid were within normal limits. Despite these normal values, there was an increase in cholest-8(9)-en-3beta-ol of 6.8 microg/mL (normal, 0.01-0.10 microg/mL) and an increase in 8-dehydrocholesterol (5.1 microg/mL) (normal, <0.10 microg/mL).- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/10. Cervical spine stenosis and possible vitamin k deficiency embryopathy in an unusual case of chondrodysplasia punctata and an updated classification system.We describe in this paper a patient with brachytelephalangic chondrodysplasia punctata (BCDP) who has multiple serious medical problems and striking physical abnormalities. These include cervical spine stenosis with resultant quadriplegia, severe nasal hypoplasia, and brachytelephalangy. Radiographs taken shortly after birth demonstrated extensive epiphyseal and vertebral stippling, and distal phalangeal hypoplasia. The pregnancy was complicated by maternal intestinal obstruction due to a small bowel carcinoma and probable malabsorption. The severity of the phenotype in this case may have been influenced by these maternal factors particularly vitamin k deficiency.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
3/10. Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural history.We report the longterm clinical and radiological progression in three unrelated patients with the tibia-metacarpal form of chondrodysplasia punctata (CDP-TM). The patients were followed for 37, 25, and 32 years, respectively. At follow-up intellectual function was normal, and physical function was well preserved. There was also marked resolution of several significant early radiographic features. The patients attained adult heights of 152, 138, and 148 cm. Two patients had chronic serous otitis media requiring tympanostomy tubes during childhood. One patient suffered persisting back pain related to spinal stenosis and required lumbar laminectomy at the age of 26 years. One patient had hip dysplasia requiring orthopedic surgical intervention. All patients had recurrent patella dislocation. Sterol and very long chain fatty acid profiles, FISH analysis for SHOX gene deletions, blood lymphocyte karyotype, and phytanic acid levels were normal in those tested, and no mutations in arylsulfatase D and E genes were detected. These data suggest that the longterm clinical and functional prognosis in this condition appears to be better than that expected based on initial clinical and radiological findings.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
4/10. Congenital rubella syndrome associated with calcific epiphyseal stippling and peroxisomal dysfunction.An infant girl had the clinical and immunologic findings of congenital rubella syndrome but also had arthrogryposis multiplex and calcific epiphyseal stippling. Spastic quadriparesis developed, and both physical and behavioral development were slow. Increased spasticity of the legs at 5 1/2 years was related not to progressive rubella encephalomyelopathy but to spinal cord compression by abnormal cartilaginous tissue. The presence of a peroxisomal disorder was demonstrated by a greatly increased level of phytanic acid and slightly increased levels of hexacosanoate in serum and by reduced activity of peroxisomal dihydroxyacetone phosphate acyltransferase and a slightly increased ratio of cytosolic to peroxisomal catalase activity in cultured fibroblasts. A reduction in the number and size of peroxisomes was demonstrated in cultured fibroblasts, and a needle biopsy specimen of the liver also showed the peroxisomes to have a smaller diameter than usual. We recommend that any child with epiphyseal stippling be assessed for peroxisomal disease and that the potential for spinal cord compression by dysplastic bone or cartilage be recognized. The association of peroxisomal dysfunction with congenital rubella has not been described previously. The interaction between rubella virus infection and peroxisomal function may need further investigation.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
5/10. X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: dna analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene.We describe a family with two male members showing an X/Y translocation (karyotype: 46,Y,der(X)t(X;Y)(p22;q11]. At physical examination both patients showed ichthyosis, mental retardation and dysmorphic features. chondrodysplasia punctata and short stature were present in one case. Direct dna analysis, using a steroid sulphatase cDNA probe, was performed in one patient, his mother and sister, both carriers of the translocation. We found that the translocated region of the y chromosome includes the steroid sulphatase pseudogene. These results suggest that in our patients the X/Y translocation may be derived from a recombinational event between homologous regions located on the short arm of the x chromosome and the long arm of the y chromosome. Clinical and molecular studies on the present family add further information for the construction of a tentative physical map of the distal Xp.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/10. Conradi's disease: a case without cutaneous manifestations.The history and physical findings of a 23-day-old male child with Conradi's disease are presented together with dermatoglyphic and roentgenographic illustrations. The case is briefly discussed together with comments on course, prognosis and differential diagnosis.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
7/10. warfarin embryopathy in siblings.Two siblings were noted to have the physical stigmata of the fetal warfarin syndrome. Their mother had received warfarin sodium for thrombophlebitis during both pregnancies but not during that of an unaffected sibling. teratogens may produce syndromes that mimic genetic disease in both phenotype and familial aggregation.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
8/10. A 13-month-old boy with progressive genu valgum.The following case illustrates the roentgenographic and clinical findings of a condition of interest to the orthopedic surgeon. Initial history, physical findings, and roentgenographic examinations are indicated below. The final clinical and differential diagnoses are presented on the following pages.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
9/10. chondrodysplasia punctata. Conradi-Hunermann syndrome.A 10-day-old girl was examined because of a peculiar, patterned hyperkeratosis that was noted at birth. The lesions were distributed over the trunk and limbs and consisted of whorls and streaks of thick, yellow, adherent scales. The salient histologic feature was marked hyperkeratosis with deep invagination of the dilated pilosebaceous ostia nearly to the level of the hair bulb. Additional physical abnormalities included patchy alopecia, bilateral zonular cataracts, a depressed nasal bridge, small stature, and multiple skeletal deformities. Roentgenograms demonstrated widespread stippled epiphyses characteristic of Conradi-Hunermann syndrome.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
10/10. Conradi-Hunermann syndrome with unilateral distribution.Conradi-Hunermann syndrome is a type of chondrodysplasia punctata characterized by skeletal, cutaneous, and ocular anomalies. genetic heterogeneity and incomplete penetrance may explain the wide clinical spectrum. We report a 7-day-old girl, product of a preterm pregnancy and delivery, with ichthyosiform erythroderma on the right half of the body at birth, as well as patchy cutaneous involvement of the contralateral side. On physical examination, we observed an ipsilateral shortening of the leg and a lenticular opacity of the right eye. Histopathologic study showed parakeratotic hyperkeratosis with prominent follicular involvement and atrophy of the granular and spinous layers. The skin eruption disappeared during the first 2 months. At 2 months of age, radiologic examination revealed stippled calcifications in the ribs, vertebral, and paravertebral areas. The most important differential diagnosis was child syndrome. We emphasize the importance of the histopathologic study in the differential diagnosis of both syndromes.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
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