1/15. The natural history of varicella embryopathy: a 25-year follow-up.A patient with clinically and immunologically proven varicella embryopathy achieved substantial recovery after initial severe developmental delay and manages well with her residual physical disabilities in adulthood.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/15. valproic acid embryopathy: report of two siblings with further expansion of the phenotypic abnormalities and a review of the literature.Fetal Valproate Syndrome (FVS) results from prenatal exposure to valproic acid (VPA). It is characterized by a distinctive facial appearance, a cluster of minor and major anomalies, and central nervous system dysfunction. In this study, two siblings who were exposed to monotherapy with VPA are described with documentation of long-term follow up. Both children had craniofacial findings, multiple systemic and orthopedic abnormalities, an overgrowth pattern, and developmental deficits. The literature from 1978-2000 is reviewed. A total of 69 cases that were solely exposed to VPA with adequate phenotypic description were identified. The clinical manifestations of FVS encompass a wide spectrum of abnormalities including consistent facial phenotype, multiple systemic and orthopedic involvement, central nervous system dysfunction, and altered physical growth. The facial appearance is characterized by a small broad nose, small ears, flat philtrum, a long upper lip with shallow philtrum, and micro/retrognathia. In this review, 62% of the patients had musculoskeletal abnormalities, 30% had minor skin defects, 26% had cardiovascular abnormalities, 22% had genital abnormalities, and 16% had pulmonary abnormalities. Less frequently encountered abnormalities included brain, eye, kidney, and hearing defects. neural tube defects were seen in 3% of the sample. Twelve percent of affected children died in infancy and 29% of surviving patients had developmental deficits/mental retardation. Although 15% of patients had growth retardation, an overgrowth pattern was seen in 9%. The data from this comprehensive review especially the developmental outcome should be added to the teratogenic risk, that arises in association with the use of VPA during pregnancy.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/15. Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemia.We report a boy, born to consanguineous patients, with agammaglobulinemia associated with multiple physical anomalies: mild intrauterine growth retardation, extreme microphthalmia (clinical anophthalmia), severe microcephaly, blepharophimosis, long face with temporal narrowing, scaphocephalic skull shape, posterior cleft palate, hypoplastic, adducted thumbs with small nails, and short, inward turned halluces with absent distal phalanges and nails. Psychomotor development was moderately delayed. No mutations were found in exons of BKT and PAX-5 genes. This unreported constellation could represent a novel, autosomal recessive syndrome.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/15. Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann-de lange syndrome.We describe two independent cases of Brachmann-de lange syndrome (BDLS) in which second trimester fetal sonographic studies showed the presence of a diaphragmatic hernia and upper limb anomalies. In both cases the karyotypes were normal. Intrauterine growth restriction (IUGR) developed in the third trimester. Postnatal and postmortem physical examinations demonstrated typical physical findings associated with BDLS. The prenatal diagnosis of diaphragmatic hernia with associated anomalies should prompt consideration of an underlying genetic etiology.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
5/15. VATER association.Baby S began oral feedings on day 8 at 20 ml/kg/day. The infant reached full enteral feedings on day 11 and was subsequently advanced to an ad lib demand schedule. The broviac catheter was removed on day 13. An orthopedic surgeon was consulted to evaluate abnormalities of the upper extremities and hip laxity noted on admission examination. The orthopedic specialist found decreased abduction of the hips bilaterally with no instability and normal range of motion on exam. An ultrasound showed bilateral posterior subluxation with no frank dislocation. The infant was evaluated by a physical therapist and received daily splinting and stretching of the upper extremities, with continued evaluation planned following discharge. When the infant was discharged on day 15, she was breastfeeding on a demand schedule with bottle supplementation and continued to receive ranitidine and metoclopramide. Follow-up was scheduled with the cardiologist, the orthopedic surgeon, and the family physician.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/15. A case of Adams-Oliver syndrome with associated brain and pulmonary involvement: further evidence of vascular pathology?We report on a case of Adams-Oliver syndrome (AOS) with typical skin and limb defects along with the unique findings of pulmonary hypertension and central nervous system (CNS) involvement. Adams-Oliver syndrome has a wide spectrum of physical anomalies ranging from characteristic aplasia cutis congenita (ACC), transverse limb defects, and cutis marmorata telangiectica to extensive lethal anomalies. While pulmonary hypertension is usually not associated with AOS, the abnormal endothelial regulation of vascular tone seen in the pulmonary vasculature may enhance current pathophysiologic concepts of vascular abnormalities in AOS. There is accumulating evidence of significant CNS defects in AOS. This infant had hypoplastic corpus callosum and focal findings in the periventricular white matter. Evaluation for pulmonary hypertension and CNS anomalies in patients suspected to have AOS, can help identify those who are at risk for acute morbidities and associated developmental delays.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/15. child syndrome in 3 generations: the importance of mild or minimal skin lesions.BACKGROUND: child syndrome (congenital hemidysplasia with ichthyosiform nevus and limb defects, Online Mendelian Inheritance in Man 308050) is an X-linked dominant trait with lethality for male embryos. The disorder is caused by mutations in NSDHL (Online Mendelian Inheritance in Man 300275), a gene playing an important role in the cholesterol biosynthetic pathway. Most reports deal with sporadic cases, and only 5 cases of mother-to-daughter transmission have been documented. We present here a family with mild features of child syndrome in 3 generations. Molecular analysis was used to confirm the diagnosis. OBSERVATIONS: We studied 14 members of a family with child syndrome. The 23-year-old proposita, her mother, 2 aunts, and her grandmother presented with mild or minimal skin lesions that had been present since infancy. Analysis of the NSDHL gene showed missense mutation c.370G-->A in these 5 patients. This mutation was absent in the 9 clinically unaffected family members tested. CONCLUSIONS: In this family, we recognized child syndrome with mild or minimal features in 3 generations because we were able to verify our clinical diagnosis by means of molecular analysis. We assume that many cases that so far have been considered sporadic may in fact be familial when a meticulous physical examination of female family members is combined with molecular testing.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/15. Five children with del (2)(q31q33) and one individual with dup (2)(q31q33) from a single family: review of brain, cardiac, and limb malformations.Five matings to a dir ins (6;2)(q16;q31q33) carrier have produced a high frequency (42%) of offspring with unbalanced karyotypes. Five children have the derivative chromosome 2 resulting in del (2)(q31q33) and one individual received the derivative chromosome 6 leading to dup (2)(q31q33). The findings associated with the deletion include pre- and postnatal growth retardation, developmental delay, minor facial anomalies, seizures, complex structural heart defects, and limb deficiency. autopsy of one individual showed complex brain malformations including hydrocephalus secondary to obstruction of the foramina of Monro, extensive heterotopias and polymicrogyria, and an unusual form of total anomalous pulmonary venous return. We compare the findings in these children to those of previously reported cases and construct an overview of the range of anomalies. Apparently, no other individual with dup (2)(q31q33) has been described. We compare the physical peculiarities of our patient with those of individuals with duplications of overlapping regions of 2q.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/15. From the analysis of a perversion.The coexistence of physical malformation and homosexuality and their mutual effects on each other are examined in the context of an account of the early months of an analysis. The material is structured around the hypothesis that this perversion is based on the existence of a perverse pact between the mother and the son, characterized specifically by a particular exchange of disavowals: the typical attribution by the child of phallic completeness to the mother is returned by her in her transformation by disavowal of the son's physical deformity into an image of beautiful fullness and physical normality. The material is set out and developed with a view to corroborating this hypothesis in detail; this account is followed by a brief review of the concepts of narcissism, disavowal and splitting of the ego, which constitute the Freudian theoretical basis for an understanding of the case. narcissism is observed here from the point of view of the fusion of mother and son and the vicissitudes and difficulties of separation. Disavowal is examined from three aspects: repudiation of the absence of a penis in the mother, of the father's function and of the physical malformation.- - - - - - - - - - ranking = 4keywords = physical (Clic here for more details about this article) |
10/15. Peters' anomaly as a consequence of genetic and nongenetic syndromes.A new syndrome includes Peters' anomaly and short-limbed dwarfism. A balanced chromosomal translocation in the brother (patient 1) appears to be coincidental to the physical abnormalities, because his sister (patient 2) has identical findings but normal fibroblast and lymphocyte karyotypes. Peters' anomaly, which includes corneal clouding, iris and/or lens adhesions to the cornea, and the absence of endothelium and Descemet's membrane, is often associated with systemic abnormalities. Since there are different genetic and nongenetic systemic conditions that include Peters' anomaly, and there are several ocular syndromes with features overlapping this disorder, we believe that Peters' anomaly is a morphologic finding rather than a distinct entity.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
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