1/9. Three-dimensional ultrasound in prenatal counselling of congenital talipes equinovarus.The fetus of a 35-year-old woman, gravida 5, para 3, was diagnosed with isolated left-sided congenital talipes equinovarus on routine ultrasound at 22 weeks of gestation. parents were counselled about the abnormality but still ultrasound pictures made it difficult for them to understand the nature of the defect. A three-dimensional ultrasound scan helped the couple to understand the abnormality, make an informed choice-with self-confidence-regarding pregnancy continuation, and plan for postnatal management.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
2/9. The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene.We report a four generation family with features of the facio-audio-symphalangism syndrome. This condition is characterized by proximal symphalangism, conductive hearing loss due to stapes fixation and a distinctive facies. A novel nonsense mutation in the NOG gene on chromosome 17q22 was identified in the patients. The variable expression and progressive nature of the syndrome is well illustrated by this family. The role of Noggin as the causative factor of symphalangism is discussed.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
3/9. Congenital constriction band associated with pseudarthrosis and impending gangrene. A case report.A newborn baby with a severe congenital constriction band associated with pseudarthrosis and impending gangrene of the foot is described. Early one-stage circumferential excision of the band with immediate wound closure by multiple Z-plasties salvaged the compromised foot. The pseudarthrosis indicated the severely compressive nature of the fibrous band. The uneventful healing of the pseudarthrosis and the full recovery of neurovascular function points to essential normal tissue underlying the constricting band.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
4/9. Macrodactyly of the foot associated with plexiform neurofibroma of the medial plantar nerve.A case of macrodactyly of the foot associated with plexiform neurofibroma of the digital branches of the medial plantar nerve is reported. The purpose of this article is to investigate the nature of the association of the rare localization of macrodactyly with a pathognomonic feature of von Recklinghausen disease. The case was approached by semiconservative surgical treatment. Two-year follow-up has shown no relapse of the deformity. These facts suggest that this case of macrodactyly was sustained by an underlying disorder, namely, a "forme fruste" of neurofibromatosis, implying the existence of a still unknown pathogenetic mechanism.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
5/9. Familial recurrence of geleophysic dysplasia.We describe a girl with the manifestations of geleophysic dwarfism: small stature, a peculiar but pleasant and good-natured facial appearance, a dysostosis-multiplex-like bone dysplasia affecting predominantly hands and feet, hepatomegaly and stenosis, and insufficiency of the aortic valve. The proposita's sister died of heart failure at 3 years and was reported by the mother to have been a tiny child with small hands.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
6/9. Extraordinary aplasia cutis congenita, or a new entity?Two cases of aplasia cutis congenita (ACC) are reported. They are unusual in that they presented in the lower extremities, showed blistering and were familial in nature. These lesions tend to heal without surgical intervention and with minimal scarring, and thus the patient can usually be assured of a happy outcome. All these characteristics support the belief that we deal either with a special entity within ACC or an entirely different syndrome.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
7/9. costello syndrome: further clinical delineation, natural history, genetic definition, and nosology.In 1977 Costello described two unrelated children with poor postnatal growth, mental retardation, curly hair, coarse face of similar appearance, and nasal papillomata, suggesting the existence of a previously undescribed syndrome of uncertain familial nature [Costello, Aust Paediatr J 13: 114-118, 1977]. The existence of this syndrome as a separate entity was substantiated several years later by two additional reports by Der Kaloustian et al. [Am J Med Genet 43:678-685, 1991] and Martin and Jones [Am J Med Genet 41:346-349, 1991]. More recently Borochowitz et al. [Am J Med Genet 43:678-685, 1992] described a new "multiple congenital anomalies/mental retardation syndrome with facio-cutaneous-skeletal involvement." Whether this condition should be considered separately from the costello syndrome is currently a matter of debate. We present three cases, two of whom are sibs, who support the identity of the two syndromes. Our aim is to better redefine the diagnostic criteria, describe the natural history, and confirm the genetic cause of the costello syndrome, whose pattern of inheritance is most likely autosomal recessive.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
8/9. Delta phalanx.The authors present a case of congenital, bilateral, symmetrical, and purely transverse plane, abductus deformity of the second digit. The deformity appears to be familial in nature, although other possible etiologies remain including premature closure of the distal-lateral epiphysis of the middle phalanx, or a C-shaped epiphysis of the middle phalanx. The authors review a similar deformity described in orthopedic literature known as a delta phalanx.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
9/9. amniotic band syndrome.amniotic band syndrome is an uncommon, congenital fetal abnormality with multiple disfiguring and disabling manifestations. A wide spectrum of clinical deformities are encountered and range from simple ring constrictions to major craniofacial and visceral defects. lower extremity limb malformations are extremely common and consist of asymmetric digital ring constrictions, distal atrophy, congenital intrauterine amputations, acrosyndactyly, lymphedema and clubfoot. Although debated, early amnion rupture with subsequent entanglement of fetal parts (mostly limbs and appendages) by amniotic strands is the primary theory of pathogenesis. The sporadic nature of this congenital anomaly is discussed, as well as a case study involving the surgical correction of an associated rigid clubfoot deformity.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |