1/26. phenotype of a patient with pure partial trisomy 2p(p23-->pter).We present the case of a 7-month-old girl with the karyotype 46,XX, der(13) t(2;13)(p23;p11.2).ish der(13)(wcp2 ) de novo. Painting confirmed that the additional segment on 13p was of chromosome 2 origin, resulting in trisomy 2p23 -->2pter. The child had a prominent forehead with a flat hemangioma, depressed nasal bridge, protruding tongue, posteriorly angulated ears, esotropia with poor abduction of the right eye, bilateral severe myopia (-5.5 D), retinal hypopigmentation, foveal hypoplasia, and striking left optic nerve hypoplasia. She also had pectus excavatum, a protruding abdomen with diastasis recti, generalized hypotonia, delayed fine and gross motor development, grade II reflux on the left side, and grade III-IV reflux on the right side. An EEG showed epileptiform discharges. Computed tomographic scan of the brain showed decreased white matter, but magnetic resonance imaging showed normal results.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
2/26. ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.ABCD syndrome is an autosomal recessive syndrome characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (hirschsprung disease [HSCR]), and deafness. This phenotype clearly overlaps with the features of the Shah-waardenburg syndrome, comprising sensorineural deafness; hypopigmentation of skin, hair, and irides; and HSCR. Therefore, we screened dna of the index patient of the ABCD syndrome family for mutations in the endothelin B receptor (EDNRB) gene, a gene known to be involved in Shah-waardenburg syndrome. A homozygous nonsense mutation in exon 3 (R201X) of the EDNRB gene was found. We therefore suggest that ABCD syndrome is not a separate entity, but an expression of Shah-waardenburg syndrome.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
3/26. Prenatally detected trisomy 4 and 6 mosaicism--cytogenetic results and clinical phenotype.We report on a live-born male with 46,XY/47,XY 4/47,XY, 6 mosaicism. trisomy 4 mosaicism was detected by karyotyping chorionic villus samples (CVS) and was confirmed by the analysis of 16 metaphases obtained from cultured amniotic fluid cells. Eight metaphases were normal (46,XY), two had trisomy 4 (47,XY, 4), and two had trisomy 6 (47,XY, 6). Two postnatal chromosomal analyses of blood lymphocytes at birth and at the age of one week were normal. Chromosomal analysis of cultured skin fibroblasts from the right inguinal region at the age of 12 months revealed trisomy 4 (47,XY, 4) in 49 metaphases, trisomy 6 (47,XY, 6) in 2 metaphases, and a normal karyotype (46,XY) in 49 cells of the 100 analyzed metaphases, respectively. The main clinical findings consist of prenatal growth retardation, hypoplasia of the right side of the face, a dysplastic and posteriorly rotated right ear, a high vaulted palate, retrognathia, aplasia of the right thumb, hypoplasia of the fingernails, a deep sacral dimple, and patchy skin hypopigmentation of the right leg. When last seen at the age of 14 months, his development was nearly normal. Five patients with trisomy 4 mosaicism have been reported previously, but none with an additional trisomy 6 mosaicism.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
4/26. New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria.Regional skin hypoplasia has been described in several genetic syndromes, including focal dermal hypoplasia (FDH), microphthalmia with linear skin defects (MLS), oculocerebrocutaneous syndrome (OCCS), and terminal osseous dysplasia and pigmentary defects (TODP). All but OCCS have been reported to follow an X-linked inheritance pattern. We describe a 14-year-old girl with clinical features overlapping with these disorders. She had mild mental retardation, macrocephaly, microphthalmia, right-sided morning glory optic disc anomaly, palmar and lip pits, and polysyndactyly. A swirling pattern of skin hypopigmentation, papular hypopigmented and herniated skin lesions reminiscent of FDH most prominent over her face, head, hands, and feet was evident. brain magnetic resonance imaging (MRI) showed polymicrogyria (most severely in the perisylvian and mesial frontal regions), enlarged left lateral ventricle, partial agenesis of the corpus callosum, and optic nerve tumor on the right. Dermatopathologic examination of the skin lesions was consistent with basaloid follicular hamartomas. The skin and digit anomalies observed overlap with FDH, but polymicrogyria, basaloid follicular hamartomas, optic nerve tumor, and morning glory anomaly have not previously been described in FDH. skin defects in MLS are linear and the eyes typically have sclerocornea. Polymicrogyria has been described in OCCS, but not in any of the other three syndromes. The limb anomalies in TODP are reductions rather than polysyndactyly. skin defects are localized to the face, and digital fibromas usually occur. While significant overlap exists between all four of the syndromes discussed, we believe that the constellation of anomalies observed in this girl most likely comprises a newly recognized syndrome.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
5/26. A syndrome of hemimaxillary enlargement, asymmetry of the face, tooth abnormalities, and skin findings (HATS).Hemimaxillofacial dysplasia and segmental odontomaxillary dysplasia appear to be the same syndrome, having the common features of unilateral abnormalities of bone, teeth, gums, and skin. oral manifestations are the hallmark of this condition. Those affected are generally recognized in childhood and may have partial anodontia, abnormal spacing of the teeth, delayed eruption, and gingival thickening of the affected segment. Reported cutaneous manifestations include facial asymmetry, Becker's nevus, "hairy nevus," lip hypopigmentation, discontinuity of the vermilion border, depression of the cheek, and erythema. The oral lesions do not appear to be progressive. We describe a child with features consistent with hemimaxillofacial dysplasia/segmental odontomaxillary dysplasia. Findings of a biopsy specimen from the cheek confirmed the presence of a Becker's nevus. Cutaneous findings reported in the previous 31 cases are reviewed and summarized. The acronym HATS (hemimaxillary enlargement, asymmetry of the face, tooth abnormalities, and skin findings) is introduced to reflect the spectrum of abnormalities in bone, teeth, and skin that may be seen in this developmental disorder.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
6/26. Girl with monosomy 1p36 and angelman syndrome due to unbalanced der(1) transmission of a maternal translocation t(1;15)(p36.3;q13.1).We report on a girl with monosomy 1p36.3 and angelman syndrome due to an unbalanced transmission of a maternal balanced chromosomal translocation. She manifested monosomy 1p36 and angelman syndrome including generalized hypopigmentation, ataxic movements, intractable seizures with characteristic electroencephalographic (EEG) abnormality compatible with angelman syndrome, and other minor anomalies, large anterior fontanelle, severe psychomotor retardation, and seizures due to monosomy 1p36. Her karyotype was 45, XX, der(1) t(1;15)(p36.31;q13.1),-15, derived from maternal translocation. Molecular analysis determined a breakpoint of 1p between D1S243 and D1S468, which suggested that most genes contributing to the common phenotype are in the distal region.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
7/26. An unusual combination: aortic arch coarctation associated with Dandy-Walker variant.We report on a 29-year-old woman with aortic arch coarctation with cerebral anomalies including posterior fossa cyst, hydrocephalus, cerebellar vermis hypoplasia and multiple congenital anomalies including hirsutism, hipotelorism, shortened philtrum, unregulated teeth and short alveolar crest, rotated auricles, short and webbed neck, hypopigmentation on the scalp, bilateral clinodactyly, bilateral hallux valgus, brachydactyly on the left foot 3rd finger, hemangioma on the sacrum. An extra-anatomical bypass was made by grafting from the ascending to the distal descending aorta. Some of these features are consistent with the diagnosis of the other clinical syndromes except genetical expression, no chromosomal deletions in our patient with normal familial pedigree, however, cerebral anomalies are consistent with the Dandy-Walker variant. To the best of our knowledge, literature contains no other report of the association of aortic coarctation, Dandy-Walker variant with these clinical features. These previously undescribed combinations, however, raise the possibility of a newly recognized disorder.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
8/26. Sternal malformation/vascular dysplasia syndrome with linear hypopigmentation.We report a 7-year-old boy who presented with a facial haemangioma, a circumscribed depression over the sternum, coarctation of the aorta, ventricular septal defect and dysplastic cerebral arteries responsible for an episode of acute infarct. This combination of clinical features has been described as the sternal malformation/vascular dysplasia syndrome or PHACES syndrome. At the age of 5 years, lines of hypopigmentation were noted on the right arm, the right hand and the back, along the lines of Blaschko, with no history of any preceding inflammatory changes, and have persisted unchanged. These pigmentary changes have not previously been reported in association with this syndrome.- - - - - - - - - - ranking = 5keywords = hypopigmentation (Clic here for more details about this article) |
9/26. Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.BACKGROUND: Gillespie syndrome is a rare variant form of aniridia, characterized by mental retardation, nonprogressive cerebellar ataxia, and iris hypoplasia. Unlike the more common dominant and sporadic forms of aniridia, there have been no associated PAX6 mutations or Wilms' tumor reported in Gillespie syndrome patients. Ocular findings in 21 cases published since Gillespie's initial description in 1965 include iris and foveal hypoplasia, nystagmus, and small optic discs with pigmentary retinopathy. CASE REPORT: We herein report a case of atypical Gillespie syndrome associated with bilateral ptosis, exotropia, corectopia, iris hypoplasia, anterior capsular lens opacities, foveal hypoplasia, retinal vascular tortuosity, and retinal hypopigmentation. Neurologic evaluation revealed a mild hand tremor and learning disability, but no ataxia or cerebellar abnormalities on neuroimaging. Sequencing studies revealed a substitution in intron 2 of the PAX6 gene (IVS2 2T > A). To our knowledge, this is the first mutation of PAX6 gene reported in association with a Gillespie-like syndrome.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
10/26. The ocular changes of incontinentia pigmenti achromians (hypomelanosis of Ito).incontinentia pigmenti achromians is a multisystem hereditary disorder characterized specifically by a whorled or streaked cutaneous hypopigmentation and frequently characterized by numerous neurologic, musculoskeletal, and ocular abnormalities. We present a patient with incontinentia pigmenti achromians in whom the ocular abnormalities included the commonly reported exotropia, myopia, small optic nerve, and hypopigmentation of the fundus, as well as rarely reported corneal asymmetry, pannus, and atropic irides with irregular pupillary margins. The patient also had a cataract in the right eye and a retinal detachment in the left eye.- - - - - - - - - - ranking = 2keywords = hypopigmentation (Clic here for more details about this article) |
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