Biomedical subjects
Publications and source records attributed to F Majewski.
We describe monozygotic twin sisters concordant for Rubinstein-Taybi syndrome diagnosed at the age of 10 weeks. The typical features of Rubinstein-Taybi syndrome in early infancy increasingly developed towards the total "Gestalt" at the age of 2 years and 10 months.
We report a 2-year-old girl with craniosynostosis, an ossification defect of the cranial vault, midface hypoplasia, low frontal hairline, anti-mongoloid slant of the palpebral fissures, ptosis of the lateral upper lids and high-arched narrow palate. There are additional findings fitting the Gorlin-Chaudhry-Moss syndrome, such as hypoplasia of the labia majora, hypoplasia of the distal phalanges of fingers and toes and conductive hearing loss, but hypertrichosis and dental anomalies are missing, which were described in the four females previously reported with the probably autosomal recessive Gorlin-Chaudhry-Moss syndrome. Since the autosomal dominant Saethre-Chotzen syndrome may show similar cranio-facial features, short fingers with non-obligatory cutaneous syndactyly, and ossification defects of the cranial vault, the Saethre-Chotzen syndrome should also be considered in our patient.
We report on two patients with Pallister-Killian syndrome: an 18 month old male infant followed since the neonatal period and a 4 year old boy. Prenatal diagnosis by chorionic villi sampling (CVS) in the first case showed a normal karyotype without mosaicism. Chromosome analysis on peripheral lymphocytes of the newborn also showed a normal karyotype. The clinical diagnosis of Pallister-Killian syndrome was made after the first year of life because of the typical facial dysmorphism and other characteristic clinical features, such as frontotemporal alopecia, depigmented area of the skin, sensorineural hearing loss, and severe psychomotor retardation. Chromosome analysis from skin fibroblasts now showed an isochromosome 12p mosaicism. The origin of the extra chromosome was confirmed by in situ hybridisation using a chromosome 12 specific library. In the second case chromosomal analysis from peripheral lymphocytes at the age of 19 months showed a normal karyotype 46,XY. Following the clinical diagnosis of Pallister-Killian syndrome a superficial skin biopsy was performed which showed very poor and slow growth of cells and a normal karyotype. Because of the typical symptoms a larger and deeper skin biopsy was performed from which there was rapid growth of fibroblasts. Now the diagnosis was established on the basis of the presence of an i(12p) extra chromosome in 69% of the metaphases.
We report a 16-year-old growth deficient boy with craniosynostosis, radial hypoplasia and hypoplastic thumbs. These findings are consistent with the autosomal recessively inherited Baller-Gerold syndrome (BGS) which furthermore shows a great variability of concomitant occasional anomalies. At the age of 16 years our patient suffered from an osteosarcoma of the left distal femur. The occurrence of malignancies has not yet been reported in the hitherto described 22 patients with BGS.
We report on two boys with oto-palato-digital syndrome type II, characterized by growth retardation, bowed long bones, missing or hypoplastic fibulae, sclerosis of the skull base and wavy, irregular clavicles and ribs. The facial appearance is distinctive due to prominent forehead, widely spaced eyes, antimongologid slant of palpebral fissures, flattened nasal bridge and retrogenia. The mother of one patient showed a mild manifestation of oto-palato-digital syndrome type II. Only about 20 cases of this rare X-linked disorder have been reported so far. The similarities and dissimilarities to oto-palato-digital syndrome type I are discussed.
We report two fetuses with Fryns syndrome including the typical facial appearance and distal limb and lung hypoplasia, but no diaphragmatic hernias. The parents were consanguineous. Characteristic in both cases were the distal limb defects with brachytelephalangism and aplasia of the distal phalanges of the first toe. Since one of the two sibs had severe lung hypoplasia without macroscopic or microscopic defects of the diaphragm, we show that lung hypoplasia can occur independently from diaphragmatic defects in Fryns syndrome.
We report on the third patient with serpentine fibula-polycystic kidney syndrome. Main features in the three reported cases were growth retardation, abnormal face, hirsutism, short neck, bowed forearms and lower legs due to bowed radii and elongated serpentine fibulae, and metatarsus adductus. Two patients including our own were deaf. All were mentally normal, all were female and sporadic. In addition, we report on a girl with Melnick-Needles syndrome and illustrate the similarities and differences between these syndromes.
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We report on a 2 year old boy with an apparently previously undescribed multiple congenital anomaly/mental retardation syndrome characterised by postnatal short stature, postnatal microcephaly, dysmorphic face, syndactyly 2/5 of the hands and 1/4 of the feet, and brachymesophalangy of fingers 2 and 5.
We describe complete cutaneous syndactyly of all fingers and polydactyly in a 2-month-old girl. Based on 3 previous reports, this constitutes a separate entity (McKusick 18620) with probable autosomal dominant inheritance.
We describe the seventh patient with the Floating-Harbor syndrome. Similar to previous cases in the literature this girl presented with proportionate intrauterine and postnatal growth retardation, normocephaly, triangular face with bulbous nose, long eyelashes, short upper lip, small vermilion border of upper lip, dorsally rotated ears, deep nuchal hair line, hirsutism, and clinodactyly of little fingers. She exhibited mental retardation and retarded speech development. Clinical symptoms and differential diagnosis of this rare syndrome are briefly discussed.
A case of tracheal agenesis, a rare foregut malformation, is described. This malformation is combined with a tracheo-oesophageal fistula, furthermore with rectal and anal atresia, cardiac malformations, dysplastic kidneys, wedge-shaped vertebrae, and cerebellar hypoplasia. Since a tracheo-oesophageal fistula is a possible component of the VACTERL Association [(V) vertebral defects, (A) anal atresia, (C) cardial malformations, (T) tracheo-(E)-oesophageal fistula, (R) renal or (L) limb malformations], similar cases are reviewed from the literature and their relationship to this association is discussed.
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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 describe a case of a Turkish boy with features of hydantoin-barbiturate-embryopathy. Main symptoms are hypoplasia, partly aplasia, of the finger- and toenails as well as the distal phalanges. His epileptic mother was treated with phenobarbiturates during the first three months of pregnancy.
We have analysed the pedigrees of 265 probands with Crohn disease, collected from a specialty clinic at the University of Düsseldorf. Complex segregation analysis suggests the presence of a recessive gene with incomplete penetrance for susceptibility to the disease with no residual causes of family resemblance. However, a proportion of the isolated cases are probably due to phenocopies, this proportion being greatest among cases with an advanced age of onset.