Familial Dandy-Walker variant in CDG syndrome.
Explore the source record for details and available documents.
Adolescent↗
Biomedical subjects
G Sorge
Publications and source records attributed to G Sorge.
SHORT syndrome: a new case with probable autosomal dominant inheritance.
A further case of SHORT syndrome is reported. This 9-year-old Italian boy was short of stature and had partial lipodystrophy, minor facial anomalies, mild hyperextensibility of joints, ocular depression, Rieger anomaly, delay in speech development and in dental eruption. The father and sister showed a striking similarity to the propositus. Moreover, the sister had bilateral and symmetrical lens opacities, which have not been reported previously in affected subjects or their relatives. A variable expression of an autosomal dominant gene can be considered in the present family.
Abnormalities, Multiple↗
Early fatal course in three brothers with FG syndrome.
Explore the source record for details and available documents.
Abnormalities, Multiple↗
Hypertrichosis, coarse face, brachydactyly, obesity and mental retardation.
A 17-year-old boy with a complex array of dysmorphic features including generalized hypertrichosis of the terminal hair, coarse face, short stature, obesity, brachydactyly with broad proximal phalanges, small and dyschromic nails, and mental retardation is reported. Virilizing endocrinopathies, obesity/mental retardation syndromes, and conditions with hirsutism associated with small or absent nails are discussed and particular emphasis is given to the syndrome of "generalized hypertrichosis terminalis and gingival hyperplasia" which shares some features with the patient.
Abnormalities, Multiple↗
[Animal husbandry and hunting in the neolithic age as an example of animal remains Pestenacker (Lkr. Landsberg am Lech) settlement].
In Pestenacker (Lkr. Landsberg am Lech) archaeological excavations are done by the Bayer. Landesamt für Denkmalpflege since 1988 in a neolithic settlement, which is to be dated in the Altheimer Kultur. Dendrochronological datation indicates a beginning of settling in 3496/95 BC. The settlement is located below the border of a riss-glacial terrace beside a brook and shows a regular ground plan. Because of the high water level there is an excellent preservation of organic materials and bones. The osteological investigation of the animal bones shows data of the holding of domestic animals, the consumption of meat and the value of hunting. The biological analysis points out the reconstruction of the surrounding landscape and biotops. The archaeological investigation, a mapping of the distribution of the bones, shows the homework.
Animal Husbandry↗
Spondyloperipheral dysplasia.
We present a patient with spondyloperipheral dysplasia, a rare skeletal dysplasia which is characterized by vertebral body abnormalities (platyspondyly, end-plate indentations) and brachydactyly. Our patient also manifested a characteristic "pugilistic" face, sensorineural deafness and mental retardation. This chondroosseous dysplasia appears to be inherited as an autosomal dominant disorder. It appears that there is considerable clinical variability in spondyloperipheral dysplasia.
Adult↗
Proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H): a model of a developmental field defect.
Proximal femoral focal deficiency (PFFD) and fibular a/hypoplasia (FAH) are distinct malformations of the lower limbs. Both can occur as isolated defects or in association with other limb malformations. In fact, fibular defects frequently are present in PFFD, and, conversely, femoral abnormalities can be found in the presence of a typical FAH picture. We report on 5 patients with a variable combination of femoral and fibular defects. In one of them unilateral PFFD was associated with lateral foot defects, in the absence of fibular abnormalities, and with a phenotype similar to that observed in the femoral hypoplasia/unusual face syndrome (FH/UFS). Another patient had isolated PFFD on one side, with controlateral absence of femur, fibula, and tibia. Another patient had a PFFD, fibular hypoplasia, and abnormalities of fibular foot rays, and the last 2 patients, a father and son, had, respectively, bilateral foot malformations plus fibular and tibial hypoplasia in the father and a PFFD in the son. These observations represent a further demonstration of the existence of a fibular developmental field, and contribute to the definition of its spatial boundaries. The variable involvement of elements comprised in the developmental field can be explained by multifactorial etiology.
Abnormalities, Multiple↗
Primary osteoma cutis--multiple café-au-lait spots and woolly hair anomaly.
An 11-year-old girl with typical features of primary osteoma cutis is reported. She demonstrated multiple areas of subcutaneous, asymptomatic, slow-growing nodules, mostly localized at the extremities. Radiographic evidence of soft tissue calcification and histologic confirmation of ectopic bone formation was obtained. She also showed café-au-lait spots, woolly hair and intrauterine growth deficiency.
Bone and Bones↗
Branchio-oculo-facial syndrome and dermal thymus: case report and review of the literature.
We report a patient affected by the rare branchio-oculo-facial syndrome. Histologic study of the branchial clefts showed thymic remnants. A scanning electron microscopic study of the hair was also performed. The clinical features of the patient were compared with those of other patients reported in the literature.
Branchial Region↗
Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis.
The acrofacial dysostoses (AFDs) are a heterogeneous group of disorders combining defects of craniofacial and limb development. The predominantly preaxial form is called Nager AFD, the predominantly postaxial form of AFD (POADS) is also known as the Genée-Wiedemann or Miller syndrome. The former appears to be about twice as common as the latter with well-documented autosomal dominant and recessive occurrences in both conditions. Only 1 AD occurrence of POADS is known, but 5 sets of sibs are suggestive of AR inheritance. Heterogeneity of apparently nonsyndromal AFD of both types is powerful support for the hypothesis that the AFDs are polytopic field defects arising during blastogenesis. Six other previously described forms of AFD include the AFD syndrome of Kelly et al. (AR), the Rodríguez or Madrid form of AFD (AR or XLR), the Reynolds or Idaho form of AFD (AD), the Arens or Tel Aviv type of AFD (AF?), the presumed AR AFD syndrome of Richieri-Costa et al., and the AD Patterson-Stevenson-Fontaine syndrome. Here we review the AFDs and report on a previously apparently undescribed autosomal or X-linked dominant form of AFD with mental retardation in a Sicilian mother and her 4 sons.
Adolescent↗
Idiopathic multicentric osteolysis: family report and review of the literature.
A mother and son affected by idiopathic multicentric osteolysis are reported. This condition usually manifests in early childhood and is characterized by progressive destruction of the carpal and tarsal bones, with or without renal anomalies. Unusual facies might be the clinical features of the syndrome. Review of the literature shows that osteolysis can occur in isolation or may be associated with renal and/or facial anomalies.
Child↗
Patient with multiple congenital anomalies and decreased production and processing of procollagen in cultured fibroblasts.
We report on a patient with hip and elbow dislocations, joint hyperextensibility, peculiar facial appearance, torticollis, cryptorchidism, unilateral hexadactyly, and other minor anomalies. Cultured cells from this patient produce less type I procollagen and have a slower rate of processing of type I procollagen to collagen in the culture medium. We think that the pattern of clinical anomalies constitutes a previously unreported syndrome with type I procollagen defect as a manifestation of the syndrome.
Abnormalities, Multiple↗
Seizures in patients with trisomy 21.
We report on the incidence of seizures in 113 patients with Down Syndrome (DS), 43 coming from the OASI Institute for Research on Mental Retardation and Brain Aging, Troina, and 70 from the outpatient clinic of the Department of Pediatrics, University of Catania. We obtained the following results: 15 (13.2%) patients had seizures; 6 (5.3%) febrile seizures (FS) and 9 (7.9%) afebrile seizures (aFS). Among the latter group 2 patients had generalized tonic-clonic seizures, 3 partial complex seizures, and 4 infantile spasms. The seizures appeared early in life. Only 2 adult patients had seizures. These results suggest that patients with DS show a higher incidence of FS and of aFS than non-DS individuals. Seizures in DS may be an epiphenomenon of the neurological abnormalities, both anatomical and functional, usually observed in these patients.
Adult↗
Proteus syndrome: report of a case with severe brain impairment and fatal course.
A patient with Proteus syndrome is reported. He had hemihypertrophy, bilateral hypertrophy of the third fingers, skin anomalies, and varicosities, as well as mental retardation, seizures resistant to anticonvulsant treatment, and a very severe course with death at the age of 2 years.
Abnormalities, Multiple↗
A case of the Freire-Maia Odontotrichomelic syndrome: nosology with EEC syndrome.
We report on a patient, born to consanguineous parents, who had a complex malformation syndrome of severe upper limbs anomalies, peculiar face, structural ear anomalies, nasolacrimal duct obstruction, and abnormal hair and nails. We think that the clinical manifestations of the patient are similar to those described by Freire-Maia as the odontotrichomelic syndrome; the differential diagnosis between this syndrome and ectrodactyly, ectodermal dysplasia, and cleft/lip palate (EEC) syndrome is discussed.
Abnormalities, Multiple↗
CFC syndrome: report on three additional cases.
We describe three patients, originating from three different Italian localities, affected by the cardio-facio-cutaneous (CFC) syndrome. In addition to a varying degree of mental retardation, these patients present characteristics consisting of a peculiar face with bitemporal frontal constriction and other anomalies involving the eyes, nose, ears, hair, skin, and heart that are consistent with this diagnosis.
Abnormalities, Multiple↗
Inv(8)(p23q22) and recombinant derivative in a Sicilian family.
A family with inv8(p23q22), in which one girl with a derivative chromosome 8 showed the characteristic phenotype, is reported. Our case differs from the 32 known families with inv8(p23q22), being the first of apparently non-Hispanic descent. The anomaly may, however, have its origins in the Spanish domination of Sicily.
Abnormalities, Multiple↗
Duplication 9p due to unequal sister chromatid exchange.
A case of trisomy 9p syndrome is reported. The karyotype showed a tandem duplication of the short arm and of the inverted heterochromatic block of chromosome 9. Unequal sister chromatid exchange seems to be the only possible cause of this finding.
Chromosome Banding↗