1/28. Mandibulo-acral dysplasia in a one-year-old boy.We report on a 1-year-old boy with Mandibulo-acral dysplasia, a rare autosomal recessive syndrome (MIM 248370). He presented at the age of 6 months with short stature, scarce brittle hair and thin skin mainly on the skull with visible veins. The facial appearance was typical with micrognathia, prominent eyes and a thin nose. Hypoplastic terminal phalanges and acroosteolysis were present. Psychomotor development is normal.- - - - - - - - - - ranking = 1keywords = dysplasia (Clic here for more details about this article) |
2/28. 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 = 0.4keywords = dysplasia (Clic here for more details about this article) |
3/28. 18q-syndrome and ectodermal dysplasia syndrome: description of a child and his family.The 18q- syndrome [MIM #601808] is a terminal deletion of the long arm of chromosome 18. The most common deletion extends from region q21 to qter. We report here a nine-year-old boy possessing a simple 18q- deletion who had abnormalities of the brain, skull, face, tooth, hair, bone, and skin, plus joint laxity, tongue palsy, subtle sensoneural deafness, mental and speech delay, attention deficit hyperactivity disorder (ADHD), tic, and restless legs syndromes. His karyotype was 46, XY, del (18)(q21.31-qter). The size of the deletion was approximately 45 cM. Most of these abnormalities were not explained by the 18q- deletion. The family pedigree suggested the presence of a subtle involvement of ectodermal and/or mesodermal structures. Karyotypes of the other family members were normal.- - - - - - - - - - ranking = 75.67530922457keywords = dysplasia syndrome, dysplasia (Clic here for more details about this article) |
4/28. macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations.macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is a recently described multiple congenital anomaly/mental retardation (MCA/MR) syndrome of unknown cause. This condition is easily recognizable at birth in children with macrocephaly, cutis marmorata, face and/or body segmental overgrowth, toe syndactyly, midface capillary malformation, and hemimegalencephaly. Cutis marmorata may be absent in some cases. Most patients are developmentally delayed. We describe seven new patients, including two with unusual cerebral manifestations and severe outcome. One of two had a complex congenital heart defect (CHD) and died in the neonatal period. brain magnetic resonance imaging (MRI) showed generalized cortical dysplasia. The other patient had a stroke episode at age 14 years. Cerebral arteriography showed an abnormal vascular pattern. These findings are consistent with the fact that M-CMTC is a generalized vasculopathy.- - - - - - - - - - ranking = 0.2keywords = dysplasia (Clic here for more details about this article) |
5/28. A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic features.macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is characterized by macrocephaly, cutis marmorata, capillary malformations, toe syndactily, joint laxity and pre-natal overgrowth. Cerebral abnormalities might also be seen. We reported cerebral magnetic resonance imaging (MRI) findings of a case with M-CMTC, who had giant atrial septal aneurysm and atrial septal defect. Cerebral alterations determined by MRI were bilateral prominent lateral ventricles, bilateral cortical dysplasia, cavum septi pellucidum cyst and calvarial hemangioma. At 17th day of his life he suddenly developed cardiorespiratory arrest and died.- - - - - - - - - - ranking = 0.2keywords = dysplasia (Clic here for more details about this article) |
6/28. Maxillofacial and dental manifestations in a patient with mandibulo-acral dysplasia.Mandibulo-acral dysplasia (MAD) is a rare condition characterized by mandibular hypoplasia, acroosteolysis, delayed cranial suture closure, hypoplastic clavicles, stiff joints, dental crowding, atrophy of the skin of the hands and feet, progeroid facial appearance, alopecia and short stature. This report presents a patient with MAD, suffering from difficulty in mastication and speech, together with limited lip closure and aesthetic problems related to the clinical outcomes of the syndrome. The aim of reporting this case is to detail the first widely determined dental and maxillofacial abnormalities of a rare syndrome, mandibulo-acral dysplasia, and to contribute to the data regarding the etiology of consanguinity.- - - - - - - - - - ranking = 1.2keywords = dysplasia (Clic here for more details about this article) |
7/28. Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: three new cases and review of the literature.Restrictive dermopathy is a rare, lethal autosomal recessive syndrome. We report on 3 unrelated affected stillborn infants of consanguineous parents. Clinical findings include a tight, thin, translucent, taut skin, which tears spontaneously in flexion creases, arthrogryposis multiplex congenita (including the temporomandibular joint), enlarged fontanelles, typical face and dysplasia of clavicles and long bones. Histologic abnormalities include hyperplastic, abnormally keratinized epidermis, reduced tonofilaments, thin, compact dermis with hypoplasia of the elastic fibres, and abnormal subcutaneous fat. Fifteen previous cases are reviewed.- - - - - - - - - - ranking = 1keywords = dysplasia (Clic here for more details about this article) |
8/28. A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis.Oculo-dento-digital dysplasia (ODDD) is a rare autosomal dominant congenital disorder mainly affecting the development of the face, eyes, skeletal system, heart and dentition. ODDD has been mapped to chromosome 6q22-q24 and germline mutations have been identified in the connexin 43 gene, GJA1. Abnormalities of the skin, hair, and nails have been recognized in ODDD but are often easily overlooked. We report an ODDD patient with curly hair, early trichorrhexis nodosa and discrete keratoderma. Molecular genetic studies revealed a novel GJA1 mutation affecting the amino terminus of the gap junction protein alpha-1 (Cx43). In the light of the cutaneous findings in our patient and based on recent ectodermal dysplasia classification systems, we propose to include ODDD in the group of ectodermal dysplasias.- - - - - - - - - - ranking = 1.4keywords = dysplasia (Clic here for more details about this article) |
9/28. Missing creases of distal finger joints as a diagnostic clue of nail-patella syndrome.nail-patella syndrome (NPS, OMIM 161200) is an autosomal dominant disorder with a clinical characteristic tetrad consisting of fingernail dysplasia, hypoplastic or absent patellae, bony protuberances of the ilia (iliac horns) and dislocation of the radial head. kidney involvement may lead to renal failure, and there is an increased risk for glaucoma. Clinical diagnostic skin clues are triangular lunulae especially on the thumbs which are highly predictive for the NPS. A less known but even more important sign is the absence of skin creases on the dorsal aspects of the distal interphalangeal joints. Even in patients with normal nails the absence of distal interphalangeal creases was noted. Less specific skin changes are webbing between digits, within the popliteal fossae, hyperextensible joints, absent or fragile nails and grooved nails and longitudinal ridging with splitting. With increasing costs in the health care system, it is important to recognize diseases by specific clinical findings which are often as predictive and precise as expensive technical investigations.- - - - - - - - - - ranking = 0.2keywords = dysplasia (Clic here for more details about this article) |
10/28. focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum.A case is reported with right-sided abnormalities involving the brain, eyelid, eye, face and chest. The features described are similar to those found in conditions including focal dermal hypoplasia, microphthalmia with linear skin defects, oculocerebrocutaneous syndrome and terminal osseous dysplasia and pigmentary defects. However, none of these conditions, fully explains the collection of abnormalities found in this patient.- - - - - - - - - - ranking = 0.2keywords = dysplasia (Clic here for more details about this article) |
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