1/13. Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.McKusick-Kaufman syndrome (MKKS) is a rare, recessively inherited syndrome reported mainly in young children and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and congenital heart defect. bardet-biedl syndrome (BBS) is the generic name for a genetically heterogeneous group of autosomal recessive disorders characterised by retinal dystrophy or retinitis pigmentosa (appearing usually between 10 and 20 years of age), postaxial polydactyly, obesity, nephropathy, and mental disturbances, or, occasionally, mental retardation. Typically, MKKS is diagnosed (and reported) in very young children, whereas the diagnosis of BBS often is delayed to the teenage years. We report here a series of nine patients diagnosed in infancy with MKKS because of the presence of vaginal atresia and postaxial polydactyly, who later developed obesity and retinal dystrophy, thus turning out to be instances of BBS. The overlap of BBS and MKKS is a real diagnostic pitfall and its importance has to be stressed, for genetic counselling, for clinical management and follow up, and for molecular approaches. The diagnosis of MKKS should be considered with caution in all published cases described exclusively in the neonatal period and in those with mental retardation. We strongly recommend all children seen in infancy with a diagnosis of MKKS to be re-evaluated for RP and other signs of BBS.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
2/13. Overlap of PIV syndrome, VACTERL and pallister-hall syndrome: clinical and molecular analysis.The polydactyly, imperforate anus, vertebral anomalies syndrome (PIV, OMIM 174100) was determined as a distinct syndrome by Say and Gerald in 1968 (Say B, Gerald PS. Lancet 1968: 2: 688). We noted that the features of PIV overlap with the VATER association and pallister-hall syndrome (PHS, OMIM 146510), which includes polydactyly, (central or postaxial), shortened fingers, hypoplastic nails, renal anomalies, imperforate anus, and hypothalamic hamartoma. Truncation mutations in GL13, a zinc finger transcription factor gene, have been shown to cause PHS. We performed a molecular evaluation on a patient diagnosed with PIV, whose mother, grandfather, and maternal aunt had similar malformations. We sequenced the GLI3 gene in the patient to determine if she had a mutation. The patient was found to have a deletion in nucleotides 2188-2207 causing a frameshift mutation that predicts a truncated protein product of the gene. Later clinical studies demonstrated that the patient also has a hypothalamic hamartoma, a finding in PHS. We concluded that this family had atypical PHS and not PIV. This result has prompted us to re-evaluate the PIV literature to see if PIV is a valid entity. Based on these data and our examination of the literature, we conclude that PIV is not a valid diagnostic entity. We conclude that patients diagnosed with PIV should be reclassified as having VACTERL, or PHS, or another syndrome with overlapping malformations.- - - - - - - - - - ranking = 0.51410599818662keywords = anus (Clic here for more details about this article) |
3/13. pallister-hall syndrome with stenosis of the cricoid cartilage and microphallus without hypopituitarism.The pallister-hall syndrome is characterised by a spectrum of anomalies including congenital hypothalamic "hamartoblastoma" hypopituitarism, imperforate anus, polydactyly and various visceral anomalies. Rare familial cases with an autosomal dominant inheritance pattern with variable expressivity have been reported. Cases of more mildly affected individuals with pallister-hall syndrome have been described, including cases of asymptomatic individuals. We report a case of pallister-hall syndrome with microphallus and without growth hormone deficiency that has been followed successfully for two years. The patient presented postaxial polydactyly of hands, dysplasic nails, imperforate anus, small penis, scrotum bifidum with very thin urethra, bifid epiglottis and a bilateral simian crease. There was vesico-ureteral-reflux, insertional hexadactyly of the left hand and two Y shaped metacarpal with six fingers at the right hand. brain MR imaging revealed a large sellar and suprasellar mass. A perineal anorectoplasty and a vesicostomy were performed. Laryngeal dyspnea appeared when he was 13 months old. bronchoscopy revealed anterior synechia of vocal cords with cricoidian stenosis. A tracheostomy was performed. Mental development was normal. No mutation of the zinc finger transcription factor gene, GLI 3 was detected.- - - - - - - - - - ranking = 0.51410599818662keywords = anus (Clic here for more details about this article) |
4/13. bardet-biedl syndrome initially presenting as McKusick-Kaufman syndrome.bardet-biedl syndrome (BBS) and McKusick-Kaufman syndrome (MKKS) are rare congenital disorders of autosomal recessive inheritance. Because of the phenotypic overlap of both syndromes, including hydrometrocolpos (HMC) and postaxial polydactyly (PAP) in the neonatal stage, the potential for diagnostic confusion exists. A case of BBS with the initial presentation of MKKS is reported. MKKS was diagnosed during the neonatal period based on the classical findings of HMC together with vaginal atresia and PAP. However, follow-up examination after the age of 2 years revealed additional clinical features consistent with BBS, including mental retardation, obesity, and retinitis pigmentosa. A rehabilitation program was undertaken for the problems of moderate motor delay and slurred speech. MKKS may be considered as a variant of BBS. Careful monitoring for the complications of BBS including ophthalmologic, neurologic, and urologic assessments should be performed in patients with MKKS.- - - - - - - - - - ranking = 0.5keywords = atresia (Clic here for more details about this article) |
5/13. A patient with facial abnormality, imperforate anus, tetrapolyhypodactyly and meningocele: a variable manifestation of the polyoligodactyly/imperforate anus/vertebral anomalies syndrome.We present a case of an 80-day-old boy with major anomalies consistent with polyoligodactyly/imperforate anus/vertebral anomalies (PIV) syndrome. In addition, he had facial abnormality, tetrapolyhypodactyly, and sacral meningocele. polydactyly was of postaxial and central types, and all the distal phalanges were absent. The association of such anomalies enabled pinpointing of the development of this complex anomaly from the 4th to the 6th weeks of the embryonic phase. This condition is extremely rare, and the estimated incidence is 3 in one billion.- - - - - - - - - - ranking = 2.3134769918398keywords = anus (Clic here for more details about this article) |
6/13. pallister-hall syndrome and McKusick-Kaufmann syndrome: one entity?The pallister-hall syndrome is characterised by specific facial anomalies, postaxial polydactyly, imperforate anus, and brain anomalies including a diencephalic hamartoblastoma. The hallmarks of the McKusick-Kaufmann syndrome are hydrocolpos owing to vaginal atresia, postaxial polydactyly, imperforate anus, and congenital heart defects. We report a patient with the unique features of hydrocolpos, postaxial polydactyly, and hypothalamic hamartoblastoma and discuss the different aetiological considerations of both syndromes and implications for clinical management.- - - - - - - - - - ranking = 1.0141059981866keywords = atresia, anus (Clic here for more details about this article) |
7/13. The McKusick-Kaufman hydrometrocolpos-polydactyly syndrome--a case report.Hydrometrocolpos is a rare congenital anomaly and serious life threatening condition in the newborn infant due to its long-term compression sequelae and associated congenital anomalies. prenatal diagnosis of hydrometrocolpos by sonogram allows appropriate management during the prenatal and neonatal period. The combination of hydrometrocolpos and polydactyly is the cardinal hallmark feature of McKusick-Kaufman Syndrome. We present a case of congenital hydrometrocolpos due to vaginal atresia combined with polydactyly of both feet, mild atrial septum defect, bilateral hydronephrosis, fetal ascites and polyhydramnios. Pathogenesis and treatment of hydrometrocolpos and its associated congenital anomalies are discussed.- - - - - - - - - - ranking = 0.5keywords = atresia (Clic here for more details about this article) |
8/13. McKusick-Kaufman syndrome associated with esophageal atresia and distal tracheoesophageal fistula: a case report and review of the literature.A female infant with McKusick-Kaufman syndrome associated with esophageal atresia and distal tracheoesophageal fistula is presented. To the best of our knowledge, this is the second report in the literature of this association.- - - - - - - - - - ranking = 2.5keywords = atresia (Clic here for more details about this article) |
9/13. Autosomal dominant transmission of the pallister-hall syndrome.We describe a 9-year-old boy and his 34-year-old father with the pallister-hall syndrome. The proband had precocious puberty, imperforate anus, postaxial polydactyly, hypospadias, a hypothalamic mass, and a displaced pituitary gland. The father had polydactyly, a hypothalamic mass, and a flattened pituitary gland. We conclude that the most likely cause of the pallister-hall syndrome is a mutation in a gene inherited in an autosomal dominant manner.- - - - - - - - - - ranking = 0.25705299909331keywords = anus (Clic here for more details about this article) |
10/13. Severe congenital limb deficiencies, vertebral hypersegmentation, absent thymus and mirror polydactyly: a defect expression of a developmental control gene?We describe two unrelated patients with a complex malformation pattern that may be a candidate for a developmental gene disorder. These two patients had severe, symmetrical upper and lower limb deficiencies, vertebral hypersegmentation, and duodenal atresia. Patient 1 also had mirror-image polydactyly of his feet; patient 2 was athymic. The concurrence in two unrelated patients of additional vertebrae with severe anomalies in limb development, including a symmetrical deficiency of the four limbs and either mirror-image duplication of some toes (only in patient 1) or absence of the thymus (only in patient 2), represents an early alteration in body-plan organization. Since limb development, thymus development and segmentation are possibly under the control of homeobox genes in the human embryo, it seems reasonable that the malformations observed in these two patients resulted from a defect of a gene controlling developmental pattern formation, possibly a homeobox gene or a paired-box gene. Severe limb deficiencies have been reported in other well-known genetic entities, such as Roberts syndrome, Baller-Gerold syndrome, X-linked amelia, and DK-phocomelia syndrome. However, since the specific pattern of anomalies observed in these patients makes the diagnosis of some of the abovementioned disorders unlikely, we conclude that our patients have a previously undescribed disorder.- - - - - - - - - - ranking = 0.5keywords = atresia (Clic here for more details about this article) |
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