Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors report two cases of congenital laryngotracheal stenosis in children with punctate epiphysis disease. This rare condition manifests itself clinically by dwarfism of the extremities, saddle-shaped deformity of the nose, cataract and visceral lesions. The specific common feature is the presence of radiological calcifications in bones with chondral ossification. Laryngeal or tracheal localisations are rare. They may be associated with laryngotracheal stenosis. On the basis of these two cases and of eight other found in the recent literature, the authors attempt to define the relationship of such stenosis with the existence of laryngotracheal calcifications and to define their prognostic significance in the course.
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PMID:[Two cases of laryngotracheal stenosis in children suffering from punctate epiphysis disease (author's transl)]. 53 95

Chondrodysplasia Punctata is a disease belonging to the metaphysia syndrome. This disease is characterized by endochondral punctata calcification of epiphysis or apophysis, short legs and hands, arthrogryposis, saddle nose, ichthyosis, cataract and mental retardation. This report concerns a case of Chondrodysplasia Punctata (Rhizomeric form) in a 4 year 1 month old girl. Observations were made from the dental point of view, and the findings were as follows: 1) The mesio-distal and bucco-lingual lengths of all primary teeth were smaller than the standard size. 2) Measuring the dental cast, the width of the dental arch was found to be larger, but the length of the arch was found to be smaller than the standard size. 3) The value of the palatal height was slightly smaller, compared with that of the normal children. 4) According to X-ray cephalometric analysis, the growth of the mandible was insufficient. 5) An enlargement of the angles of the teeth axes of the upper and lower central incisors was found. 6) The growth of the basal arches of the maxilla and mandible were shown to be retarded in the anterior portion. 7) Measurement of the area of the tubella sella triangle, revealed the posterior parts to be large and almost standard in the mesofacial part, and small in the mandibulo-facial parts.
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PMID:[Dental findings in a case of Chondrodysplasia Punctata]. 213 55

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).
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PMID:Cholesterol metabolsim defect associated with Conradi-Hunerman-Happle syndrome. 1112 47

A 12-year-old male child presented with bilateral visual loss and short stature. He had dysmorphic faces, barrel shaped chest and short limbs with enlarged peripheral joints. In addition he had bilateral retinal detachment with secondary cataract formation. Skeletal survey revealed irregular platyspondyly, hypoplastic femoral head and enlarged epiphysis of long bones with cloud like calcification. Radiological features were diagnostic of Kniest syndrome. The child underwent pars plana lensectomy and a vitreo-retinal surgery with silicon oil infusion in the right eye for retinal detachment.
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PMID:Kniest syndrome. 1817 50