1/18. skin eruption as the presenting sign of Hunter syndrome IIB.We present a case of Hunter syndrome diagnosed because of skin eruption. A 4-year-old Japanese boy presented with a 3-4-months history of papular lesions on the back and extremities. His growth and development were almost normal. His face was not of coarse appearance. He had multiple, whitish to skin-coloured, papules and nodules symmetrically distributed on the scapular regions and the extensor aspects of the upper arms and thighs. There was no family history of similar symptoms. skin biopsy showed the deposition of a considerable amount of mucin in the dermis. Although physical examinations failed to detect any other signs of Hunter syndrome, x-rays showed the characteristic features of mucopolysaccharidosis: deformities of the vertebral bone, ribs, and pelvis. Mucopolysaccharide analysis of the urine revealed a marked increase in dermatan sulphate and heparan sulphate. The activity of iduronate sulphatase in the lymphocytes was deficient, which was diagnostic for Hunter syndrome. We emphasize that the skin eruption can be the earliest sign of Hunter syndrome, particularly in the mild form presenting with normal development and growth.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/18. Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome.We describe a girl with physical anomalies, accelerated skeletal maturation, failure to thrive, and respiratory difficulties consistent with a diagnosis of Marshall-Smith syndrome (MSS). Chromosome analysis showed an inverted duplication of chromosome 2 [46,XX,inv dup(2)(q37q32) de novo] identified by G banding and confirmed by FISH. Several cases of trisomy 2q3 have been reported and established a syndrome, but the present case is the first to be associated with accelerated skeletal maturation and a clinical picture resembling MSS. This raises the possibility that the cause of MSS involves the q3 region of chromosome 2. Few reports of MSS include study of the karyotype, although the chromosomes were apparently normal in those cases where they have been examined. We suggest that karyotyping be undertaken with particular attention to the 2q3 region in patients with suspected MSS. It also would be prudent to assess bone age in all children with trisomy 2q.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/18. Detection of a cryptic translocation t(13;20)(q34;p13) in an unexplained case of MCA/MR: value of FISH over high resolution banding.Cryptic unbalanced chromosome rearrangements in the telomeric bands of the chromosomes may constitute a significant cause of unexplained mental retardation with or without congenital anomalies. We report on a boy with a terminal deletion of the long arm of chromosome 13, combined with a partial duplication of the short arm of chromosome 20, owing to a cryptic balanced translocation in his father. The karyotype of the father was 46XY,t(13;20)(q34;p13). The propositus presented with severe mental and growth retardation, microcephaly, facial anomalies including ptosis of the right upper eyelid, a high nasal bridge, small palpebral fissures, and bilateral epicanthus, hypospadias, and scoliosis. A younger brother died at birth and had a low birth weight, hypospadias, and a horseshoe kidney. Repeated chromosome analyses with high resolution banding in the propositus and his parents were apparently normal. chromosome painting eventually disclosed the cryptic translocation in the father with unbalanced karyotype in the propositus. The importance of additional FISH analysis in patients with unexplained mental retardation, physical anomalies, and apparently normal chromosomes is emphasized.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/18. Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype.The evaluation of mental retardation is always a challenge to clinicians. The recognition of specific physical or behavioral characteristics can vastly improve diagnostic yield. Several genetic disorders have been identified to have certain behavioral characteristics, such as williams syndrome, smith-magenis syndrome, and the velocardiofacial syndrome (VCFS). The deletion affecting the chromosome 22q in the most distal band (22q13) appears to define yet another neurobehavioral phenotype. In addition to our report, there are about 17 other cases published of this particular deletion syndrome. We describe three children who share features of developmental delay and pervasive behaviors in addition to normal to advanced growth patterns. Results of cytogenetic analysis suggest that the 3 patients share a deletion affecting the terminal 22q13 region. Two were found to have a cryptic deletion, in the third it was detected by conventional cytogenetics. The cryptic deletions were demonstrated using fluorescent in situ hybridization (FISH), where the control probe for the DiGeorge/VCFS region was deleted. While there remain gaps in our understanding of this particular deletion syndrome, we propose that patients with normal or advanced growth, significantly delayed speech, deviant development and pervasive behaviors, with minor facial dysmorphism, be screened for this deletion.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/18. cleft palate in a patient with Williams' syndrome.cleft lip or palate has not been reported in the medical literature as a part of Williams' syndrome. We present a patient who had cleft palate among other congenital manifestations. This patient's immediate postnatal period clinically seemed to have a Pierre Robin sequence. With the development of the craniofacial complex, microgenia and micrognathia with glossoptosis gradually became apparent. On further assessment, the patient showed other clinical findings that suggested a syndromic association. This required a complete evaluation to discard other conditions that present with low psychomotor development and distinctive facies, such as Kabuki syndrome or fetal alcohol syndrome. The diagnosis for Williams' syndrome was established based on the clinical features and supported by the fluorescent in situ hybridization test. Williams' syndrome has been described as a rare, congenital disorder characterized by physical and developmental problems. Common features include characteristic "elfin-like" facies, supravalvular aortic stenosis, hypercalcemia, low birth weight, slow weight gain, feeding problems, impulsive and outgoing personality, limited spatial skills and motor control, and intellectual disability. Although individuals with Williams' syndrome may show competence in areas such as language, music, and interpersonal relations, their IQs are usually low and they are considered moderately to mildly retarded.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/18. A previously unreported syndrome of multiple scalp whorls and associated anomalies.A 13-month-old male infant with 14 hair whorls in the scalp, sparse frontal hair, wide forehead, ectropion, abnormal implantation of eyelashes, peculiar face and depigmented nipples is reported. Other aspects of his physical and mental development were within normal limits. The constellation of clinical features in this patient appear to represent a previously undescribed syndrome.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/18. Dysmorphic face in two siblings with infantile neuroaxonal dystrophy.Infantile neuroaxonal dystrophy (INAD) is an autosomal recessive, neurodegenerative disease with onset in the first or second year of life. It has been reported that INAD shows numerous phenotype characteristics including problems associated with vision, hearing and physical coordination. It has however been very rare to see facial dysmorphism in these children. The study analyzes a girl and boy of a first cousin marriage with infantile neuroaxonal dystrophy affected at birth. At infancy, the children were examined in the Cerrahpasa Medical faculty genetic research Center, Istanbul. They had typical INAD features such as the lack of head control, vision, speech, sitting, and walking which are also seen in children with other congenital abnormalities. These children showed remarkable dysmorphism in the face which included prominent forehead, strabismus, small nose, fish mouth (boy), micrognathia, and large and low-settled ears. The presence of these facial features makes the patients appear unique and diagnosis more accurate. While these features are commonly seen diagnosis may be difficult at its onset. Until now this appearence has not been reported in INAD patients. In conclusion, in the first few months of life without any clinical or neurological signs, the physician should also consider diagnosing the disease of the infant as INAD.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/18. A case showing an association between type 1 diabetes mellitus and Kabuki syndrome.The case of a 31-year-old female suffering from type 1 diabetes mellitus (DM) and Kabuki syndrome is presented. The patient was diagnosed as having impaired glucose tolerance (IGT) at age 18; secondary amenorrhea occurred at age 20, following acute body weight loss. Extensive examination revealed the patient to have a slowly progressive form of type 1 DM and, based on the physical findings, including her facial features, she was diagnosed as also having congenital Kabuki syndrome. Since then, this patient has experienced several episodes of diabetic ketoacidosis, all of which were brought about by prolonged bronchial infection. Although it is perhaps reasonable at present to consider this case to represent a chance association, further clinical investigations will be carried out to clarify whether or not Kabuki syndrome and type 1 DM have any common pathogenic features.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/18. Cardiomyopathy in coffin-lowry syndrome.coffin-lowry syndrome (CLS) is a rare but well-documented X-linked disorder characterized by small size, developmental delay/mental retardation, and characteristic facial and skeletal findings in affected males. The phenotype in affected females is far more variable and can include developmental differences, obesity, and characteristic facial and skeletal differences. Cardiac anomalies are reported in less than 20% of affected males, with cardiomyopathy being one of the rare but reported complications of this disorder. However, cardiomyopathy is not well characterized in CLS. Here, we report on a 14-year-old boy with physical and developmental findings consistent with CLS who presented with a relatively sudden onset of signs of congestive heart failure due to a restrictive cardiomyopathy; an endomyocardial biopsy demonstrated non-specific hypertrophic myocyte alterations consistent with cardiomyopathy. This is the first description of the histology and electron microscopy of cardiomyopathy in CLS.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
10/18. Severe monilethrix associated with intractable scalp pruritus, posterior subcapsular cataract, brachiocephaly, and distinct facial features: a new variant of monilethrix syndrome?monilethrix is a rare developmental hair shaft defect characterized by small elliptical node-like deformities with increased hair fragility resulting in partial or diffuse alopecia. The disorder is usually transmitted in an autosomal dominant fashion with incomplete penetrance and variable expressivity, but autosomal recessive inheritance has also been reported. It is thought to be without systemic involvement, whereas keratosis pilaris and follicular papules are almost invariably associated features. We describe an instance of monilethrix in a 9-year-old boy from consanguineous parents, characterized by universal dystrophic alopecia associated with intractable scalp pruritus, diffuse keratosis pilaris, and bilateral posterior subcapsular cataracts. His disease was further characterized by physical underdevelopment and distinct features of hypertelorism, a wide-based nose, long philtrum, relatively large mouth with thick lower lip, enlarged forehead, small, receding chin, short neck, and rounded (ultrabrachycranial) skull. The findings in our patient suggest that "monilethrix syndrome" is an appropriate term for defining the instances of monilethrix associated with other abnormalities. We conclude that our patient may represent a new and severe, autosomal recessive variant of monilethrix syndrome.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
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