1/44. anterior chamber eye anomalies, redundant skin and syndactyly--a new syndrome associated with breakpoints at 2q37.2 and 7q36.3.We report a 34-year-old female with a de novo balanced reciprocal translocation involving 2q37.2 and 7q36.3. She has a unique combination of multiple congenital malformations that include redundant skin, complete tissue syndactyly of the hands and feet, hirsutism, polycystic ovaries and bilateral anterior chamber eye anomalies. Her son has inherited the unbalanced product (46,XY,der(2) t(2;7)(q37.2;q36.3). He has a similar clinical picture with additional features including complex congenital heart disease, post axial polydactyly, hypotonia and global developmental delay. The breakpoints may indicate the location of the gene(s) responsible for this unique combination of features.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
2/44. Circumferential abdominal skin defect possibly due to umbilical cord encirclement.We report on a newborn black male twin with a distinctive circumferential abdominal skin defect who was identified through the Active Malformation Surveillance Program at the Brigham and women's Hospital. There were no other malformations, and amniotic disruption was not present. Although it cannot be proven, we believe that this skin defect may have been caused by in utero encirclement of the abdomen by an umbilical cord.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
3/44. Delleman syndrome: report of a case with a mild phenotype.Delleman syndrome is a rare disorder characterised by orbital cysts, micro/anophthalmia, malformations of the central nervous system, focal aplasia cutis, and multiple skin appendages (oculocerebrocutaneous syndrome). Although cutaneous findings provide the main clues for the diagnosis, the syndrome has received little attention in the dermatological literature. A new case of oculocerebrocutaneous syndrome with predominant and typical cutaneous involvement is reported.- - - - - - - - - - ranking = 1.1135682088727keywords = malformation, nervous system (Clic here for more details about this article) |
4/44. trisomy 12 mosaicism confirmed in multiple organs from a liveborn child.This patient, in whom trisomy 12 mosaicism was confirmed in multiple organs, is the fifth case diagnosed postnatally and the first reported for whom a meiotic origin of the trisomy, maternal meiosis I, was determined. Mosaic aneuploidy was suspected because of pigmentary dysplasia, a frequent but non-specific finding in chromosomal mosaicism. The severe phenotype of this child, who died in infancy with a complex heart malformation, was probably a result of the high percentage of trisomic cells. Cytogenetic and interphase fluorescent in situ hybridization analyses showed a highly variable distribution of aneuploid cells in the nine tissues studied, from none in blood and ovary to 100% in spleen and liver. The trisomy arose meiotically with apparent post-zygotic loss of one of the chromosomes 12; uniparental disomy for this chromosome in the diploid cell line was excluded. The phenotype of the cases reported in living or liveborn individuals has been extremely variable, ranging from the present case, in which the child died in infancy with multiple malformations and pigmentary dysplasia, to a fortuitous finding in an adult studied for infertility. The variation in severity is probably determined by the proportion and distribution of the trisomic cells, which is linked to the timing of the non-disjunctional error.- - - - - - - - - - ranking = 2keywords = malformation (Clic here for more details about this article) |
5/44. Joint and skin laxity with Dandy-Walker malformation and contractures: a distinct recessive syndrome?We report the case of a girl who has joint and skin laxity with atrophic scarring, and was diagnosed at birth with a Dandy-Walker malformation. She subsequently developed joint contractures, hydrocephalus and syringomyelia. This case shows some similarities to ehlers-danlos syndrome type VI, but with no evidence of lysyl hydroxylase deficiency or ocular fragility. It is likely that she represents a distinct and recognizable syndrome. There was parental consanguinity and a subsequent pregnancy resulted in a similarly affected fetus, suggesting autosomal recessive inheritance.- - - - - - - - - - ranking = 5keywords = malformation (Clic here for more details about this article) |
6/44. association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome.macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) constitutes a distinct entity characterized by prenatal overgrowth, macrosomia, hemihypertrophy, macrocephaly, nonobstructive hydrocephaly, frontal bossing, hypotonia, developmental delay, generalized or facial capillary malformation with upper philtral nevus flammeus and cutis marmorata, joint hypermobility, loose skin, toe syndactyly, and postaxial polydactyly. All but one of the cases reported previously had benign clinical courses without showing an increased risk of early infant death. We describe three additional cases with poor clinical outcomes including severe postnatal growth failure, intractable cardiac arrhythmia in two cases, and sudden infant death in two cases. Arrhythmia has not been described previously as one of the symptoms of M-CMCT. patients with M-CMTC associated with severe postnatal growth failure and arrhythmia may constitute a distinct clinical subtype of M-CMTC with an increased risk of life-threatening episodes or sudden death. Recognizing this clinical subtype of M-CMTC is important to prevent these serious potential complications.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
7/44. True tail dorsal-lumbar: malformation or ancestral remaining?The case of a healthy newborn presenting a dorsal-lumbar cutaneous appendage is reported. The appendage was excised by ligature. This appendage was not associated with dysraphism or other malformations. It was analysed histologically and then defined as a so called true tail. Although it was been expressed a lot of hypotheses, the etiology of this finding remains disputed. The embryology of malformation and its non identification between known-syndromes is showed. The difference between true tails and not-true tails is discussed. The conclusion is drawn that for its clinical and histological aspect this malformation may be included in true tails.- - - - - - - - - - ranking = 7keywords = malformation (Clic here for more details about this article) |
8/44. Further clinical delineation in trisomy 1q32 syndrome.A male newborn with multiple congenital abnormalities was studied. Clinically, he showed prominent forehead, facial dysmorphism, ear malformations, congenital heart defect and limb anomalies. The cytogenetic studies demonstrated a karyotype 46,XY, der(18) t(1;18)(q32;p11.3)pat with partial trisomy 1q32-qter and a monosomy 18p. The patient displayed clinical features of trisomy 1q but not of monosomy 18p. There are around 80 reports of trisomy 1q32. The purpose of this paper is to describe the first case of a translocation involving 1q and 18p chromosome breakpoints. Additional findings detected in the propositus permit us a further delineation of the trisomy 1q syndrome.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
9/44. A male with polysyndactyly, linear skin defects and sclerocornea. Goltz syndrome versus MIDAS.focal dermal hypoplasia (FDH) or Goltz syndrome is a rare clinical syndrome presenting with cutaneous, skeletal, dental, ocular, central nervous system and soft-tissue defects. We report on a male infant with characteristic skin defects of the face, trunk and extremities, polysyndactyly and unusual ocular and brain findings. He had sclerocornea of the right eye, anterior persistent hyperplastic primary vitreous of the left eye and hydrocephalus. Clinical findings support the diagnosis of Goltz syndrome. The clinical picture of Goltz syndrome is compared with that of MIDAS syndrome.- - - - - - - - - - ranking = 0.11356820887269keywords = nervous system (Clic here for more details about this article) |
10/44. Lumbopedal skin pedicle in an infant with the amniotic band syndrome: a Disorganization-like defect?A female infant is presented in whom anomalies not commonly seen in amniotic band syndrome (ABS) included non-anatomic lumbopedal union by a skin pedicle, anorectal malformation, meningocele, vertebral segmentation defects, longitudinal limb defects, vestigial feet and skin papillae. The unusual, non-band related malformations in the proposita showed similarity to the mouse mutant Disorganization (Ds). This report, supports the suggestion that Ds-like mutations may cause some cases with apparent ABS associated with "skin pedicles".- - - - - - - - - - ranking = 2keywords = malformation (Clic here for more details about this article) |
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