1/11. Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome.We describe a girl with physical anomalies, accelerated skeletal maturation, failure to thrive, and respiratory difficulties consistent with a diagnosis of Marshall-Smith syndrome (MSS). Chromosome analysis showed an inverted duplication of chromosome 2 [46,XX,inv dup(2)(q37q32) de novo] identified by G banding and confirmed by FISH. Several cases of trisomy 2q3 have been reported and established a syndrome, but the present case is the first to be associated with accelerated skeletal maturation and a clinical picture resembling MSS. This raises the possibility that the cause of MSS involves the q3 region of chromosome 2. Few reports of MSS include study of the karyotype, although the chromosomes were apparently normal in those cases where they have been examined. We suggest that karyotyping be undertaken with particular attention to the 2q3 region in patients with suspected MSS. It also would be prudent to assess bone age in all children with trisomy 2q.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/11. The Camera-Marugo-Cohen syndrome: report of two new patients.This report describes two unrelated patients with obesity, mental retardation, body asymmetry, and muscle weakness. Several obesity syndromes with common characteristics have been described. Findings in our patients, in addition to those of the previously reported cases, include body asymmetry, characteristic physiognomy, lordosis, and typical anomalies of hands and feet. These physical manifestations correspond to the Camera-Marugo-Cohen syndrome. Our patients represent the second and third cases of this condition.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/11. The inheritance of the Aarskog facial-digital-genital syndrome.Prominent physical features of the Aarskog syndrome are short stature, telecanthus, ptosis, short broad nose, long philtrum, thin upper vermilion border and pouty lower lip, low-set jug-handle ears, short broad hands with clawlike positioning of the fingers, broad feet with bulbous toes, ventral scrotal folds, cryptorchidism, and hernias. Four families with 20 affected males are reported. pedigree analysis is compatible with X-linked recessive inheritance with occasional partial expression in heterozygote females. The fact that seven sons, all unaffected, have been born to affected males argues against the alternative hypothesis of autosomal sex-influenced inheritance.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/11. 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) |
5/11. Autosomal dominant inheritance of tetramelic monodactyly.We report on tetramelic monodactyly with autosomal dominant inheritance. The propositus and all affected relatives had only digital malformations as determined by physical examination or history. Since it could not be determined that the involved digits of the propositus or relatives were fifth fingers and toes, we conclude this to be the first report of this type of hand and foot malformation with autosomal dominant inheritance.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/11. Imaging rounds #111. VATER association.The following case describes the roentgenographic and clinical findings of a condition of interest to the orthopaedic surgeon. Initial history, physical findings, and roentgenographic examinations are found on this page. The next page presents the final clinical differential diagnosis.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/11. Splinting for adaptation of musical instruments.Classic instrument design does not always match the physical capacity of the musician, as instruments are often chosen because of the pleasing sound and not the ease of play. Devices that are commercially available to create a more ergonomic structure may not address the specific needs of a musician with a chronic condition. Through basic splinting of the musician with an injury, these physical stressors can be reduced, allowing the continuation of musical practice and performance. Appropriate design modification requires a solid understanding of upper extremity anatomy, splint design technique, and the biomechanic principles of playing the instrument. Through knowledge of music theory and appreciation, one may modify the instrument while protecting tonal flexibility, resonance, mechanical freedom, and sound quality. Two case studies present a range of splint design, from small to large, static to dynamic, and for congenital or chronic conditions.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
8/11. The Greig cephalopolysyndactyly syndrome: report of a family and review of the literature.The Greig cephalopolysyndactyly syndrome in characterized by a set of craniofacial defects (macrocephaly, broad nasal root) leading to peculiar facial appearance, postaxial (occasionally preaxial) polydactyly of hands, preaxial (rarely postaxial) polydactyly of feet, and syndactyly of fingers and toes. Occasionally other skeletal or nonskeletal defects are present. This is an autosomal dominant trait with complete penetrance and variable expressivity. prognosis for mental and physical development of the affected patients is good, surgery being indicated primarily for aesthetic and functional correction of polydactyly and syndactyly. We report on a Brazilian family in whom the mother and two of three sons were affected.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/11. A contiguous gene deletion syndrome at 7q21-q22 and implications for a relationship between isolated ectrodactyly and syndromic ectrodactyly.Ectrodactyly is a genetically heterogeneous human limb developmental malformation with an autosomal locus at 7q21 designated SHFD1. We report a patient with ectrodactyly and a small interstitial deletion of 7q21, detected by high resolution karyotype, which provides additional evidence for the existence of an ectrodactyly gene in this region and further restricts the size of the critical region containing SHFD1. A review of previously published patients with ectrodactyly and similar deletions suggests a contiguous gene deletion syndrome at 7q21-q22 which consists of ectrodactyly, growth retardation, developmental delay, hypertelorism, ear malformation, components of the Robin sequence, and GU abnormalities. Moreover, the clinical, genetic, and cytogenetic similarities of a number of multiple congenital anomaly syndromes which include ectrodactyly as just one component lead us to propose that a common genetic basis may underlie many of these syndromes. Thus, evaluation for related physical anomalies and high resolution cytogenetic studies are indicated in patients with ectrodactyly.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
10/11. Pyknodysostosis: hemangioma of the skull as a new finding.Pyknodysostosis is a rare sclerosing bone dysplasia syndrome with autosomal recessive inheritance. Here, we report a case of pyknodysostosis, with characteristic physical and radiological findings, but also with a hemangioma of the skull, as a non reported finding sofar.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
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