1/20. Duplication of 7p21.2-->pter due to maternal 7p;21q translocation: implications for critical segment assignment in the 7p duplication syndrome.We describe a 1-year-old boy with mental and physical retardation, a large anterior fontanel, brachycephaly with flat occiput, short and stubby fingers, generalized hypotonia, ocular hypertelorism, low-nasal bridge, long philtrum, high-narrow palate, apparently low-set ears, and a small mandible. cytogenetic analysis utilizing high resolution chromosome banding technique showed an unbalanced karyotype consisting of 46,XY,add(21)(q22.3) that originated from maternal balanced translocation between chromosomes 7 and 21. fluorescence in situ hybridization (FISH) using micro-dissected library probe pool from chromosome 7 confirmed the additional material on 21q was derived from chromosome 7. Our results indicated that the patient had an unbalanced translocation, 46,XY, der(21)t(7;21)(p21.2;q22.3)mat, which resulted in duplication for distal 7p. Our patient is similar to reported cases with a 7p15-->pter or larger duplication of 7p, suggesting that the critical segment causing the characteristic phenotype of 7p duplication syndrome, including large anterior fontanel, exists at 7p21.2 or 7p21.2-->pter.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/20. 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) |
3/20. New mental retardation syndrome associated with ocular colobomas, cleft palate, and genital, skeletal, and craniofacial abnormalities.We describe three Canadian brothers of Cree origin, with a previously undescribed pattern of malformation including distinctive craniofacial abnormalities with triangular facies, hypertelorism, low-set and posteriorly rotated ears, ocular colobomas, ptosis, brachycephaly with widely separated sutures, cleft soft palate, undescended testes, bifid scrotum and hypospadius, wide webbed neck, webbed fingers, pectus excavatum and hypersegmented sternum, and severe psychomotor retardation. The presence of normal brain imaging and physical growth distinguishes them from other syndromes with overlapping abnormalities. This is either an X-linked or autosomal recessive condition.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/20. Preserved neurobehavioral abilities in Lujan-Fryns syndrome.We present a patient with all the physical characteristics of Lujan-Fryns syndrome, including Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size, and distinct craniofacial anomalies. Despite the presence of impaired mental abilities in many areas, this young man showed intact concrete problem-solving skills under structured, interactive conditions. In addition, he did not demonstrate any of the psychiatric features that have often been reported with this syndrome. We conclude that Lujan-Fryns syndrome can be associated with partial preservation of neurobehavioral abilities.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/20. Diagnosis and management of positional head deformity.In children with positional head deformity (posterior plagiocephaly), the occiput is flattened with corresponding facial asymmetry. The incidence of positional head deformity increased dramatically between 1992 and 1999, and now occurs in one of every 60 live births. One proposed cause of the increased incidence of positional head deformity is the initiative to place infants on their backs during sleep to prevent sudden infant death syndrome. With early detection and intervention, most positional head deformities can be treated conservatively with physical therapy or a head orthosis ("helmet").- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/20. Floating-Harbor syndrome in two sisters: autosomal recessive inheritance or germinal mosaicism?We describe the clinical histories and physical findings most compatible with the diagnosis of Floating-Harbor syndrome in two sisters. The genetic basis of the Floating-Harbor syndrome is still unclear, and family data are in favour of autosomal recessive inheritance although germinal mosaicism for an autosomal dominant gene mutation cannot be fully excluded.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/20. Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome.3p deletion syndrome is a rare contiguous-gene disorder involving the loss of the telomeric portion of the short arm of chromosome 3 and characterized by developmental delay, growth retardation, and dysmorphic features. All reported cases have involved, at a minimum, the deletion of chromosome 3 telomeric to the band 3p25.3. Despite the presence of several genes in this region that are involved in neural development, a causative relationship between a particular transcript and the observed clinical manifestations has remained elusive. We have identified a child with characteristic physical features of 3p deletion syndrome and both verbal and nonverbal developmental delay who carries a de novo balanced translocation involving chromosomes 3 and 10. Fine mapping of this rearrangement demonstrates that the translocation breakpoint on chromosome 3 falls within the recently identified minimal candidate region for 3p deletion syndrome and disrupts the Contactin 4 (CNTN4) mRNA transcript at 3p26.2-3p26.3. This transcript (also known as BIG-2) is a member of the immunoglobulin super family of neuronal cell adhesion molecules involved in axon growth, guidance, and fasciculation in the central nervous system (CNS). Our results demonstrate the association of CNTN4 disruption with the 3p deletion syndrome phenotype and strongly suggest a causal relationship. These findings point to an important role for CNTN4 in normal and abnormal CNS development.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/20. early diagnosis of wolf-hirschhorn syndrome triggered by a life-threatening event: congenital diaphragmatic hernia.wolf-hirschhorn syndrome (WHS, OMIM 194190) is a chromosomal disorder characterized by retarded mental and physical growth, microcephaly, Greek helmet appearance of the facies, seizures/epilepsy. Closure defects of lip or palate, and cardiac septum defects occur in 30-50% of cases. Its cause is a deletion in the short arm of chromosome 4. We present a male patient, born after 37 weeks gestation, as the fourth pregnancy of non-consanguineous healthy parents, with unilateral cleft lip and palate, hypertelorism, a right-sided ear tag, and mild epispadias. At age 10 weeks he developed acute respiratory distress and acute bowel obstruction requiring emergency laparotomy. This revealed a left-sided posterolateral diaphragmatic defect, type Bochdalek, with incarceration of the small intestines necessitating major bowel resection. Clinical genetic investigation suggested a chromosome anomaly, but regular karyotyping was normal. However, FISH analysis showed a microdeletion in the short arm of chromosome 4 (4p-), consistent with WHS. A combination of this syndrome with congenital diaphragmatic hernia (CDH) has been rarely described. CDH can present either as an isolated defect at birth, or with multiple congenital abnormalities, or as part of a defined syndrome or chromosomal disorder. Therefore CDH, although not common in WHS, can lead to its diagnosis relatively early in life. We strongly recommend a clinical genetic evaluation of each CDH patient with facial anomalies taking into consideration 4p- deletion syndrome.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/20. 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) |
10/20. Rapp-Hodgkin syndrome.A 5-year-old boy with a history of a bifid uvula and a submucosal cleft palate presented for evaluation of brittle nails. The physical examination demonstrated cup-shaped ears, a broad nasal root, thin upper lip, mid-facial hypoplasia, coarse hair, and twenty-nail dystrophy. The clinical presentation of ectodermal dysplasia with cleft palate was consistent with Rapp-Hodgkin syndrome, which is one of several allelic diseases associated with mutations in the TP63 gene. The clinical manifestations of Rapp-Hodgkin as well as other ectodermal dysplasias with clefting are discussed.- - - - - - - - - - ranking = 3.5853417903854keywords = physical examination, physical (Clic here for more details about this article) |
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