1/7. 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) |
2/7. 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) |
3/7. 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) |
4/7. autopsy findings of a 37-year-old man with a complex mosaic karyotype involving del(18p), monosomy 13, and trisomy 20.We report on the autopsy findings of a 37-year-old man with a complex karyotype (mos46,XY,del(18)(p11.1)[14]/46,XY, -13, del (18)(p11.1), 20[8]/47,XY,del(18)(p11.1), 20[8]). He was known to be blind, non-ambulatory, have severe mental retardation, and a seizure disorder. External physical findings at the time of autopsy included micrognathia, short stubby fingers, and rocker bottom feet. Left lobe dominance of the liver and mislocation of the ileocecal junction and appendix were noted on internal examination. The brain was small (700 g) and poorly developed. Microscopically it showed an absence of neurons in the olivary and dentate nuclei, absence of purkinje cells in the cerebellum, severe depletion of internal granular cells in the cerebellum, and cerebellar dysplasia. Fat infiltration was noted in an unusual distribution in several organs including a pattern in the heart consistent with arrythmogenic right ventricular dysplasia (ARVD). Findings of this mosaic chromosomal karyotype have not been previously described. This report will discuss this individuals physical findings and their relation to similar monochromosomal aberrations.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
5/7. 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) |
6/7. trisomy 12p syndrome: de novo occurrence of mosaic trisomy 12p in a mentally retarded boy.The first case of trisomy of probable 12p mosaicism originated de novo is presented. Comparison of the clinical findings of this patient with those of previously described cases of 12p trisomy derived from translocated chromosomes indicates that the symptoms of 12p trisomy are: (1) normal birth weight and physical development, (2) severe psychomotor retardation and generalized hypotonia, (3) peculiarly round face with prominent cheeks, hypertelorism, epicanthus, broad, flat nasal bridge, short nose with anteverted nostrils, large philtrum, broad, prominent lower lip, and (4) poly(syn)dactyly of feet.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/7. Managing equinus in a child with cerebral palsy: merits of hinged ankle-foot orthoses.A comparison of hinged versus solid ankle orthoses in a child with moderate spastic diplegia demonstrated that solid ankle braces blocked needed foot and ankle mobility. The loss of movement forced the child to use extraneous movement patterns in order to move the upper body over the foot. These iatrogenically induced deviations were considered reasons for surgery. When ankle and foot mobility were increased by the use of hinged ankle braces, the gait improved and with physical therapy the reasons for surgery were removed. This case study shows that significant biomechanical changes can be achieved by simply switching from solid to articulated or hinged ankle-foot orthoses.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |