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Biomedical subjects

P Meinecke

Publications and source records attributed to P Meinecke.

At least 37 records · Page 2Linked to original sources
PubMed1996

Isochromosome Xq in Klinefelter syndrome: report of 7 new cases.

In this collaborative study we report on 2 prenatally and 5 postnatally diagnosed cases with a 47,X,i(Xq),Y chromosomal constitution. Excepting tall stature, the 5 adult patients showed all typical manifestations of Klinefelter syndrome. Taken together with previously reported cases, these data suggest that Klinefelter syndrome with isochromosome Xq has a favorable prognosis with normal mental development, and with normal-to-short stature. The prevalence of this Klinefelter variant is calculated to be between 0.3-0.9% in males with X chromosome polysomies.

Adult↗
PubMed1996

Bilateral porencephaly, cerebellar hypoplasia, and internal malformations: two siblings representing a probably new autosomal recessive entity.

We report on 2 sibs with bilateral porencephaly, absence of the septum pellucidum, and pancerebellar hypoplasia including absence of the vermis. Situs inversus and tetralogy of Fallot was present in one, and an atrial septal defect in the other. This constellation of findings is discussed against the background of familial porencephalies and schizencephalies, familial cerebellar hypoplasias, and asplenia/polysplenia syndromes. It is concluded that the described constellation of findings constitutes a new entity of probably autosomal recessive inheritance.

Brain↗
PubMed1996

Ectrodactyly and absence (hypoplasia) of the tibia: are there dominant and recessive types?

We present a kindred of brother, sister, and cousin with ectrodactyly and hypoplasia of the tibia. The parents of the cousin are consanguineous; the parents of the sibs originate from the same small Algerian village. We also report on a boy with tibial defect and split hands and feet with consanguineous parents. These observations are further hints for an autosomal recessive type of ectrodactyly with aplasia (hypoplasia) of the tibia, as was favoured by some authors. However, review of the present and reported cases does not demonstrate any clinical differences between the seemingly recessive and the dominant types. Statistical analysis of 17 families with affected sibs and normal parents showed a 1:3.1 ratio of affected:unaffected by the proband method. Despite consanguinity among nine sets of parents, this ratio, and approximately 30 additionally reported families generally are in favour of autosomal dominance with reduced penetrance.

Algeria↗
PubMed1996

Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.

A contiguous gene syndrome due to deletions of the proximal short arm of chromosome 11 is described in eight patients belonging to four families. The main clinical features are multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation. The patients have cytogenetic and/or molecular deletions of chromosome 11p11-p13. These deletions are located between the centromere and D11S914 in a region of approximately 20cM. The present study confirms the presence of a multiple exostoses gene on chromosome 11p. Furthermore, it suggests that the gene for isolated foramina parietalie permagna and genes associated with craniofacial dysostosis and mental retardation reside in the same chromosomal region.

Abnormalities, Multiple↗
PubMed1995

Further delineation of the branchio-oculo-facial syndrome.

We review 43 patients (15 new, 28 literature) with the branchio-oculo-facial (BOF) syndrome, which has a distinctive phenotype ranging from mild to severe forms, consisting of eye, ear, oral, and craniofacial anomalies. Virtually ubiquitous and possibly pathognomonic are the cervical/infra-auricular skin defects. Much less common are supra-auricular defects occurring as isolated anomalies or with cervical defects. Regardless of location, these lesions may have aplastic, "hemangiomatous," or otherwise abnormal overlying skin, and draining sinus fistulae. Renal malformations are frequent, but congenital heart and central nervous system defects are rare. Psychomotor performance is usually normal, but development delays, hypotonia, and visual, hearing, and speech problems are common. Autosomal dominant inheritance seems likely. Overlap between the BOF and branchio-otorenal syndromes has been observed, but elucidation of its molecular basis is not yet available. This article also discusses 5 patients with atypical manifestations considered to be possibly affected or probably unaffected, who are sufficiently unusual to be excluded from the final data analysis.

Abnormalities, Multiple↗
PubMed1995

Fryns syndrome: two further cases without lateral diaphragmatic defects.

We report on two unrelated infants with Fryns syndrome but without lateral diaphragmatic defects. In case 1, a female stillborn, pertinent findings included a coarse facies, cleft palate, short neck with a broad pterygium, heart defect, lung hypoplasia, omphalocele, urogenital malformations, anal atresia, and distal digital hypoplasia. Case 2 showed a coarse facies with cleft lip and palate, para-oesophageal hernia with herniation of the stomach into the thoracic cavity, malrotation of the intestine, hydronephrosis, and anal atresia. At age 14 months she was developmentally severely retarded. These observations represent the 11th and 12th reports of probable Fryns syndrome without lateral diaphragmatic defect.

Abdomen↗
PubMed1995

"C" trigonocephaly syndrome with diaphragmnatic hernia.

We report on a 6-year-old girl with C-trigonocephaly syndrome and diaphragmatic hernia. She is severely mentally retarded and shows the characteristic findings of this syndrome, including trigonocephaly, unusual facial features, especially intra-oral anomalies, low set and dysplastic ears, cardiac anomaly and neonatal hypotonia. Following our presentation at the 5th European meeting of dysmorphology in Strasbourg, P. Meinecke brought to our attention a case of C-trigonocephaly who died in the neonatal period from complications of a diaphragmatic hernia. Another case of C-trigonocephaly without diaphragmatic hernia was communicated to us by D. Lacombe. We report these three observations and present a review of 26 alleged cases.

Abnormalities, Multiple↗
PubMed1995

Desbuquois syndrome: three further cases and review of the literature.

We report three further patients with similar clinical signs to those described by Desbuquois et al. (Desbuquois G, Grenier B, Michel J, Rossignol C (1966): Arch Fr Pédiatr 23; 573-587) Two of the patients were born to consanguineous parents, confirming autosomal recessive inheritance of this condition. The patients presented with micromelic short stature, flat midface, irregular ossification of the vertebral bodies and an advanced bone age.

Abnormalities, Multiple↗
PubMed1995

Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriers.

We present three patients with the Coffin-Lowry syndrome, two males aged 21 years and 14 months respectively, and an unrelated girl aged 11 years. In the male patients the features at different ages are reviewed. Besides, we describe the pertinent features of their affected female relatives. The contribution of the family history to making the diagnosis is stressed. The isolated female proband is much more severely affected than the female relatives of the male probands, demonstrating that the clinical picture in female carriers of Coffin-Lowry syndrome can vary considerably. The differential diagnosis of Coffin-Lowry syndrome will be discussed shortly.

Abnormalities, Multiple↗
PubMed1994

The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients.

The Kabuki (Niikawa-Kuroki) syndrome was reported in 1981 by Niikawa et al. and Kuroki et al. in a total of ten unrelated Japanese children with a characteristic array of multiple congenital anomalies and mental retardation. The syndrome is characterized by a distinct face, mild to moderate mental retardation, postnatal growth retardation, dermatoglyphic and skeletal abnormalities. In Japan, the syndrome appears to have an incidence of about 1:32,000 newborns. Outside of Japan, a growing number of patients have been recognized. Clinical data are presented on 29 Caucasian patients; the patients were diagnosed over a relatively short period of time, indicating that the incidence outside of Japan is probably not lower than in Japan. A literature review of 89 patients (60 Japanese and 29 non-Japanese) is given. In 66% of the non-Japanese patients serious neurological problems were present, most notably hypotonia and feeding problems (which were not only related to the cleft palate); this was not reported in the Japanese patients. Inheritance is not clear. Most patients are isolated, sex-ratio is equal. The syndrome can be recognized in patients with cleft (lip/)palate, with mild to moderate developmental delay and in young children with hypotonia and/or feeding problems. In counselling parents, the designation "Kabuki" syndrome seems to be more appropriate than "Kabuki make-up" syndrome.

Abnormalities, Multiple↗
PubMed1993

Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome.

We present 12 children with typical Brachmann-de Lange syndrome and congenital diaphragmatic hernia. Affected children were more likely to be of low birth weight and to have major upper limb malformations. Hernia repair was attempted in 4 of these children, and only one survived past 12 months. Newborn infants with congenital diaphragmatic hernia should be examined carefully for evidence of the Brachmann-de Lange syndrome because diagnosis of this condition may influence their clinical management and prognosis.

De Lange Syndrome↗
PubMed1993

New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects.

We report on 3 pairs of sibs from unrelated families, who present with polycystic kidneys Potter type I claimed to be specific for the ARPKD, and with microbrachycephaly, hypertelorism with telecanthus, large posteriorly angulated fleshy ears and various congenital malformations including congenital heart defects. We suggest that they represent a previously unrecognized autosomal recessive lethal developmental disorder within the group of infantile polycystic kidney disease and Potter sequence.

Abnormalities, Multiple↗
PubMed1993

Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1.

We have mapped the autosomal sex reversal locus, SRA1, associated with campomelic dysplasia (CMPD1) to 17q24.3-q25.1 by three independent apparently balanced de novo reciprocal translocations. Chromosome painting indicates that the translocated segment of 17q involves about 15% of chromosome 17 in all three translocations, corresponding to a breakpoint at the interphase between 17q24-q25. All three 17q breakpoints were localized distal to the growth hormone locus (GH), and proximal to thymidine kinase (TK1). Due to the distal location of the breakpoints, previously mentioned candidate genes, HOX2 and COL1A1, can be excluded as being involved in CMPD1/SRA1. The mouse mutant tail-short (Ts) which maps to the homologous syntenic region on mouse chromosome 11, displays some of the features of CMPD1.

Abnormalities, Multiple↗
PubMed1993

The Peters'-Plus syndrome: description of 16 patients and review of the literature.

Peters'-Plus syndrome is characterized by Peters' anomaly, a typical face, cleft lip and palate, short limb dwarfism, and developmental retardation. We report the follow-up of six patients in the original report, 10 yet unreported patients, and review 26 patients that have been reported in the literature. The spectrum of the syndrome is broadened by data from affected sibs which indicate that a wider range of anterior chamber cleavage disorders may be present, a cleft lip or palate need not be present, and developmental retardation may be mild or even absent. An increased foetal loss in families with Peters'-Plus syndrome may indicate intrauterine death of some foetuses affected by the syndrome. The pattern of inheritance is autosomal recessive.

Abnormalities, Multiple↗
PubMed1993

Potter sequence due to renal aplasia and postaxial hexadactyly. A distinct entity?

Report on a prematurely born female with the Potter sequence, postaxial hexadactyly of both hands, and bilateral short metacarpals I. Autopsy findings included severely hypoplastic lungs, bilateral renal aplasia as well as aplasia of the vagina and uterus. Chromosomes were normal (46,XX). Similar--though not identical--observations have been published by Holzgreve et al. (5), by Bonnet et al. (2), and by Legius et al. (6).

Abnormalities, Multiple↗
PubMed1993

Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome. Report on a second family.

Report on a second family. The patients, an 18-year-old boy and his 15-year-old sister, have pre and postnatal short stature, microcephaly, moderate to severe mental retardation, and cutaneous syndactylies of hands and feet. In addition, they show a mildly dysmorphic but apparently characteristic face. Radiologically, hands and feet demonstrate brachydactyly, metacarpals and metatarsals being the most severely affected. This observation confirms that this multiple congenital anomalies/mental retardation pattern is a distinct, probably autosomal recessively inherited entity.

Abnormalities, Multiple↗