1/22. Russell-silver Syndrome in a Nigerian infant with intrauterine growth retardation.Russell-silver Syndrome (RSS) is a rare cause of pre-natal dwarfism, associated with recognizable dysmorphic features and limb asymmetry. The propositus was a term infant of unrelated Nigerian parents, whose 35-year-old mother had peri-conceptual haloperidol for schizophrenia. Anthropometric values suggested severe prenatal stunting in a term infant with asymmetric "head sparing" intrauterine growth retardation (IUGR). A syndromic consideration of Russell-silver dwarfism was subsequently predicated on the distinctive dysmorphic craniofacial features of a triangular facial profile with a broad forehead and hypoplastic mandible, right upper and lower limb rhizomelia, clinodactyly of the little fingers, micro-penis, and (unilateral) cryptochidism. Routine care of a small-for-gestational-age infant was pursued, but postnatal growth remained slow (despite adequate caloric provision) until a parent-pressured discharge at 4 weeks. His subsequent demise was said to have occurred "suddenly" 2 weeks post-discharge. Despite the limitations posed by the local paucity of modern investigative tools for genetic disorders, the current case report underscores the diagnostic reality of RSS in a non-white African population. While emphasizing the need for a high index of diagnostic suspicion for congenital malformations and syndromic causes of IUGR in the African sub-region, we suspect a possible etiologic association of haloperidol embryopathy with RSS in the current case. The characteristic features, differential diagnoses, etiologic postulates/current cytogenetic and molecular genetic findings of RSS are fully reviewed in the discussion.- - - - - - - - - - ranking = 1keywords = dwarfism (Clic here for more details about this article) |
2/22. Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia.In this communication, we report the identification of a mosaic R248C missense mutation in the IgII-III linker region of the gene encoding the fibroblast growth factor receptor-3 (FGFR3), in an individual who manifests a skeletal dysplasia and epidermal hyperplasia. By means of Denaturing High Performance Liquid chromatography (DHPLC), we determined that 25% of her lymphocytes are heterozygous for this particular missense mutation in FGFR3, and that 12.5% of her lymphocyte-derived genomic dna encodes a cysteine residue at this position. The proposita has disproportionate short stature, radial head dislocation, coxa vara, and bowing of some of the long bones, associated with an S-shaped deformity of the humerus, accompanied by widespread acanthosis nigricans in the integument. These features do not match any previously described skeletal dysplasia. Further, the proposita's only pregnancy ended in the delivery of a fetus manifesting a lethal short-limbed dwarfism with pulmonary hypoplasia, strongly suggestive of an undiagnosed thanatophoric dysplasia. These findings confirm the proposita to be a somatic and germline mosaic for this particular missense mutation in FGFR3. Thus far, all reported FGFR3 R248C mutations have resulted in thanatophoric dysplasia type I (TDI).- - - - - - - - - - ranking = 0.5keywords = dwarfism (Clic here for more details about this article) |
3/22. Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe "boomerang dysplasia"?The authors report a case of lethal neonatal dwarfism characterized by striking micromelia, fused rudimentary and supernumerary digits, large, soft head, pronounced hypertelorism, protruding eyes set laterally, enormous omphalocele and severe deficiency of tubular bone and spine ossification. Histologic examination showed lack of ossification of the cartilaginous anlage of many tubular bones. The cartilage had irregularly distributed chondrocytes. The matrix contained hypocellular and degenerated areas with scattered large chondrocytes. In a few bones a very disorganized growth cartilage was present. The case is similar to that described by Piepkorn et al. (1977) and may represent a severe form of "boomerang dysplasia" (Kozlowski et al., 1981; Tenconi et al., 1983; Kozlowski et al., 1985; Winship et al., 1990).- - - - - - - - - - ranking = 2.5keywords = dwarfism (Clic here for more details about this article) |
4/22. Perinatally lethal, short-limbed dwarfism with distinct features -- Schneckenbecken dysplasia.The clinical, radiographical and histological features are described for a case of Schneckenbecken dysplasia, presenting antenatally with increased nuchal thickness and severe skeletal dysplasia. Intrauterine death occurred in the third trimester and the precise diagnosis was made postmortem. This is the first case reported in the UK.- - - - - - - - - - ranking = 2keywords = dwarfism (Clic here for more details about this article) |
5/22. Prenatal sonographic diagnosis of thanatophoric dwarfism.A case of thanatophoric dwarfism is reported in a 35-year-old woman. The diagnosis was made at 34 weeks gestation by ultrasound. Marked shortening of the extremities, macrocephaly, narrow thorax and polyhydramnios were observed. The importance of routine ultrasound screening in pregnancy is emphasized, since such malformations can be detected prenatally.- - - - - - - - - - ranking = 2.5keywords = dwarfism (Clic here for more details about this article) |
6/22. holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.A syndrome of holoprosencephaly and postaxial polydactyly, associated with hydrocephalus, heart defect, adrenal hypoplasia, and other visceral malformations, has been observed in five unrelated children with normal chromosomes. Clinical overlap with lethal acrodysgenital dwarfism (smith-lemli-opitz syndrome type II) and hydrolethalus syndrome is discussed. Recessive inheritance seems likely.- - - - - - - - - - ranking = 0.5keywords = dwarfism (Clic here for more details about this article) |
7/22. Thanatophoric dwarfism; drugs and antenatal diagnosis; a case report.Thanatophoric dwarfism is not as rare as once thought. We present this case because of the possible association with drug administration and the probability of diagnosing this condition antenatally.- - - - - - - - - - ranking = 2.5keywords = dwarfism (Clic here for more details about this article) |
8/22. Lethal short-rib with median cleft and without polydactyly: a fourth case.A new case of Beemer short-rib lethal dwarfism is presented in a 27 weeks fetus with discussion of the radiological and clinical pecularities. Differential diagnosis with other short-rib-polydactyly syndromes is briefly developped.- - - - - - - - - - ranking = 0.5keywords = dwarfism (Clic here for more details about this article) |
9/22. A new type of lethal short-limbed dwarfism.Details are presented of a most unusual osteo-chondrodysplasia which presents with lethal neonatal short-limbed dwarfism, defective ossification and nodular calcification within cartilage. The features resemble one case previously described in the literature. We wish to present a new type of lethal short-limbed dwarfism which has presented in one family. Three affected infants have been born to unaffected parents who are first cousins. The third affected infant is reported in detail and the radiological signs of all three sibs are summarised in Table 1. There are also two healthy children, a boy and a girl, born at term.- - - - - - - - - - ranking = 3keywords = dwarfism (Clic here for more details about this article) |
10/22. Cystic brain lesion in utero.Two autopsy cases of cystic brain lesion in utero are reported. One of them was a donor infant of twin transfusion syndrome. The baby died immediately after birth and showed multicystic encephalomalacia in the distribution of the anterior cerebral artery. The second baby was a stillborn infant with thanatophoric dwarfism with associated chronic periventricular leukomalacia (PVL). It was suggested that the multicystic encephalomalacia and chronic PVL found in the first and second cases were caused by persistent circulatory disturbances in utero.- - - - - - - - - - ranking = 0.5keywords = dwarfism (Clic here for more details about this article) |
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