Biomedical subjects
Publications and source records attributed to G Camera.
We report on two unrelated female patients with unilateral macrodactyly of the 1st and 2nd toes and of the 3rd, 4th, and 5th toes, respectively. In addition, they had a local plantar soft tissue lump and radiographically abnormally broad phalanges of the affected toes. These clinical manifestations may represent either an isolated macrodactyly or an extremely localized form of Proteus syndrome.
We describe a father and his child with bilateral syndactyly of fingers IV and V and with pinched nose, hypoplastic alae nasi and thin anteverted nares. The patients also showed a small nodule on the tongue tip. Both had no ocular or dental anomalies. The clinical features of our patients resemble those of the patients described by Brueton et al. The hypothesis that the oculodentodigital dysplasia may belong to a contiguous gene spectrum could be confirmed.
We report on a newborn with ankyloglossia inferior, micrognathia, and bilateral apodia. The tongue was small and adherent to the floor of the mouth. It has been proposed that oromandibular-limb hypogenesis sequences are due to an interruption of embrionic blood supply. Interruption or reduction of uterine artery blood flow appear to be pharmacologically or physically induced. In our case, there was no prenatal history of chorionic villus sampling, of drug or teratogens exposure, and of intrauterine infections.
We report on 2 sibs with holoprosencephaly of the semilobar type, unusual facial appearance not diagnostic of holoprosencephaly, and primary craniosynotosis involving the coronal and lambdoid sutures. The condition represents a newly recognized syndrome, possibly having autosomal recessive inheritance.
We describe an apparently newly recognized postnatal-onset obesity syndrome with short stature, mental deficiency, hypogonadism, micropenis, contractures of the fingers, and cleft lip-palate. Comparison is made with other postnatal-onset obesity syndromes, particularly Vasquez syndrome and Urban syndrome. The cause of our patient's syndrome is unknown at present. We encourage the reporting of other cases to help clarify whether our patient represents a separate entity.
We report on 2 brothers with a severe progressive disorder characterized by thick skin, acne conglobata, "coarse" face, osteolysis, gingival hypertrophy, brachydactyly, camptodactyly, and mitral valve prolapse. The youngest brother died at age 24 years because of heart failure. Biochemical and pathological studies excluded known metabolic diseases. We think that this is a new genetic disorder inherited in autosomal recessive or X-linked recessive manner.
Explore the source record for details and available documents.
Prenatal diagnosis of heterozygous achondroplasia at 25 weeks is described. First-level fetal ultrasonography demonstrated short long bones of the lower limbs. Second-level examination showed a large head; shortened femur, fibula, and tibia; a 'trident'-shaped hand; and an abnormal facial profile.
We report on two sisters in the third family affected with Sponastrime dysplasia. The clinical and radiological features are presented. The two patients showed severe mental retardation. The pattern of inheritance of this rare dysplasia is discussed.
A third family with two Italian neonates affected with limb/pelvis-hypoplasia/aplasia syndrome is reported. The disorder shows autosomal recessive inheritance.
Toriello-Carey syndrome is a malformation syndrome characterized by cranio-facial defects, visceral defects, congenital heart defects, hypotonia, and postnatal growth retardation. To our knowledge, only five patients with this condition have been reported. We describe another case of the Toriello-Carey syndrome extending the phenotypic manifestations of the syndrome.
We describe a male infant, born to healthy consanguineous parents, with Peters'-Plus syndrome. The syndrome includes corneal opacification, short stature, cleft lip and palate, low set ears, short hands and feet and mental retardation. Cranial CT scan showed agenesis of the corpus callosum which has not, to our knowledge, previously been described in Peters'-Plus syndrome patients. The consanguinity of the parents is in agreement with the proposed autosomal recessive inheritance.
Explore the source record for details and available documents.
Chondrodysplasia with snail-like pelvis (Schnechenbecken dysplasia) is a rare distinct, lethal, short-limbed dwarfism. We describe the clinical and radiological features of a new case in an Italian family.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
We report on two patients with craniofacial duplication and anencephaly. In addition to these anomalies, one patient showed vertebral fusion and diaphragmatic hernia, and the other one presented cheilognathopalatoschisis.