Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: a dominant disease with manifestations of Weill-Marchesani syndromes.

We report on a syndrome of progressive joint stiffness, glaucoma, and lens dislocation observed in three generations and compare it with two previous records of short stature, lens ectopia, and articular limitation. This family confirms the existence of a dominant Weill-Marchesani-like syndrome. We suggest that it could be related to the Moore-Federman syndrome. We coin the acronym GEMSS syndrome (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) to distinguish this dominant Weill-Marchesani-like syndrome from the classic, recessively inherited syndrome.

Prenatal diagnosis of cystic hygroma and chorioangioma in the Wolf-Hirschhorn syndrome.

We report the prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in a 24-week-old fetus. Echographic features included cystic hygroma, a complex heart defect with right ventricular hypoplasia, and a large placental chorioangioma. We suggest that chorioangioma may be associated with chromosomal imbalance and that systematic careful morphologic examination of the fetus and karyotyping of any pregnancy in which large chorioangioma is detected is advisable. Jugular lymphatic obstruction sequence has not been reported so far in association with 4p-syndrome.

Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs.

We report on an Arabic sibship originating from Morocco in which four children manifest an undiagnosed sublethal multiple congenital anomaly/mental retardation (MCA/MR) syndrome of intrauterine growth retardation (IUGR), microcephaly, large soft pinnae, telecanthus or true hypertelorism with squint, flat face, unusual hooked nose, very narrow mouth, retrognathia, and extremely severe neurologic impairment. One child was stillborn. Three others died in a cachectic state during their second year. One child had a severe cerebral malformation compatible with semilobar holoprosencephaly. Other inconstant manifestations are anterior chamber cleavage defect, preaxial polydactyly of feet, interventricular septal defect, and atresia of the external auditory meatus. Autosomal recessive inheritance is likely.

Rieger anomaly and uveal coloboma with associated anomalies. Third observation of a rare oculo-palato-osseous syndrome--the Abruzzo-Erikson syndrome.

The authors report a girl with short stature, goniodysgenesis, bilateral iridochorio-retinal coloboma, associated with facial and acral anomalies, and borderline intelligence. Anterior chamber defect and face dysmorphism are in accordance with the diagnosis of Rieger syndrome. Some features are reminiscent of the CHARGE association. Coloboma, abnormal ears, grooved palate, elbow pronosupination and hand bones anomalies are related to the Abruzzo-Erikson syndrome. The authors postulate that their propositus may represent a new occurrence of the latter syndrome, and they propose to widen the actual definition of Abruzzo-Erikson syndrome to the association of goniodysgenesis, coloboma, abnormal ears and upper limb anomalies.

Poikiloderma, alopecia, retrognathism and cleft palate: the PARC syndrome. Is this an undescribed dominantly inherited syndrome?

We report a clinicopathological observation concerning a man and his son affected by the same disease. The main cutaneous lesions included poikiloderma congenitale and generalized alopecia respecting the pubic area. These anomalies were associated with cleft palate and Robin sequence in the boy. The main histological changes consisted in a marked atrophy of hairs with persistence of sebaceous glands. In sun-exposed areas, we found colloid bodies, melanophages and hyperplasia of the elastic tissue network. Those features resembled those of the Rothmund-Thomson syndrome, but the phenotype and the apparent dominant mode of inheritance exclude this possibility. A new genodermatosis, related with, but distinct from the Rothmund-Thomson syndrome is suspected, for which the acronym PARC syndrome is proposed.

[An example of detection of heterozygotes and antenatal diagnosis in four families with anhidrotic ectodermal dysplasia]. / Un exemple de diagnostic d'hétérozygotes et de diagnostic anténatal dans quatre familles de dysplasie ectodermique anhidrotique.

Anhidrotic ectodermal dysplasia is an X-linked inherited skin disorder; only affected males exhibit the complete syndrome, whereas females may have a few mild features. The gene involved in this disease is located in the proximal area of the long arm of the X chromosome, in the q13 position. Molecular analysis is very helpful for calculating the risk of transmission in sisters with normal phenotypes and affected individuals (family 1 provides an example), but cannot solve all problems (example of family 4). The best results are obtained when there are two informative markers, each located on either side of and very close to the mutant gene. Molecular analysis can also be applied to chorionic villi sampled at the tenth week of gestation in order to achieve antenatal diagnosis in male fetuses in high risk families. Until recently, antenatal diagnosis could be performed only at the twentieth week of gestation by the demonstration of inadequate development of skin glands in skin biopsy specimens sampled under fetoscopy. Family 2 provides an example of antenatal diagnosis and highlights the risk of error that always exists in molecular analysis studies.

[Heredity in congenital dislocation of the hip]. / Hérédité de la maladie luxante de la hanche (MLH).

The hereditary pattern of CDH is well known, but the results depend on time of diagnosis, either late or in the immediate postnatal period, the latter having been the basis of the more recent studies. Early screening shows that newborns with an unstable hip are 4 times more frequent than those with late CDH. The etiology includes constitutional and environment factors. This is well demonstrated in twins. In a large series of Idelberger the concordance was 41.4% (12/29) in identical twins in cases of late CDH whereas in fraternal twins, the concordance was 2.8% (3/109). Fraternal twins have the same genetic differences as other siblings. There is also a sexual factor. In Western Europe, the frequency of unstable hips varies between 3 and 5/1000 (except in some specific areas) with 3 to 8 times more cases in girls than in boys, depending on the study and on the period of diagnosis.

3C syndrome: third occurrence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome).

We report a child with an unusual pattern of malformations: severe delay in bone maturation, wide fontanelles and facial dysmorphism (evoking cleidocranial dysplasia), relative macroencephaly with cerebellar vermis hypoplasia, hypertelorism, skeletal abnormalities (1st ribs aplasia, multifocal sternal ossification centers, thin bones), septal defect, muscular waste, hypotonia and developmental delay. Most of these features have been reported previously by Ritscher, Schinzel et al. in two sibs, who suffered more severe cerebellar malformations (Dandy-Walker cyst or vermis aplasia). We propose 3C syndrome as an easy acronym for this Cranio-Cerebello-Cardiac dysplasia.

Roberts-SC phocomelia syndrome with exencephaly.

We report a 18 weeks old fetus with the typical limb reduction anomalies of SC phocomelia syndrome, associated with exencephaly and unilateral anophthalmia, a feature previously reported in only 2 cases of severe Roberts syndrome. This observation brings another argument for lumping both diseases in a unique Roberts-SC phocomelia syndrome. Diagnosis was settled by the observation of premature centromeric splitting.

[Supravalvular aortic stenosis. Autosomal dominant form of congenital cardiopathy]. / La sténose aortique supravalvulaire forme dominante autosomique de cardiopathie congénitale.

We describe a family in which two generations are affected: two brothers and one of their maternal uncles. One of their two half-sisters (same mother) is also suspected of having the same cardiopathy. This observation confirms the autosomal dominant transmission of the disease and shows its variable expressivity in the family under study.

[Steinert's disease (dystrophia myotonica). General review]. / La maladie de Steinert (dystrophie myotonique). Revue générale.

By comments of 9 tables the main clinical and genetic features of myotonic dystrophy are recalled. Due to a most variable penetrance and expressivity, the recognition of the adult form of this autosomal dominant disease can be difficult. Congenital myotonic dystrophy is a serious disease which represents a major genetic risk for the heterozygous women, which are often very slightly affected or even not aware of their disorder. For them, prenatal diagnosis is fully justified and now possible with a small risk of error by determination of DNA polymorphism. Preclinical detection in young adults can also be improved by this new method.

Partial trisomy 20q due to paternal t(8;20) translocation. Case report and review of the literature.

In this report we present a malformed female newborn with partial trisomy 20q who was the unbalanced product of a paternal 8p/20q translocation (46,XY,t(8;20) (p23.1;q11].

Genetic counselling in unexpected familial recurrence of achondroplasia.

Two additional pedigrees with familial recurrence of achondroplasia are described. Genetic risk for children of sibs of affected individuals or premutation carriers seems to be low, but it is advisable to monitor at risk pregnancies by midtrimester ultrasonography to diagnose fetal achondroplasia.

Death through injection of barbiturates.

The authors report two cases of lethal intoxication due to barbiturates in two male individuals, respectively 24 and 35 years old. They stress the comparatively rare mode of administration of such drugs in the absence of another party, i.e. the parenteral way.

[Fetal or neonatal autopsy and genetic counseling. Experience of the Human Genetic Service of Liège]. / L'autopsie foetale ou néonatale et le conseil génétique. L'expérience du Service de génétique humaine de Liège.

From January 1976 to June 1984, 308 necropsies were performed on neonates and fetuses of various gestational age, mainly coming from hospitals of the province of Liege. 41% of the necropsied infants have at least one malformation and 34% of the malformed show multiple birth defects. There were 17 anatomo-clinic diagnoses of chromosomal aberrations but only 12 cases were confirmed by caryotype, for practical or technical reasons. One third of the parents of the necropsied infants came for genetic counselling with a high recurrence risk in 13% of the advices. For further improvement of the possibilities of diagnosis, we are pleading in favour of more frequent radiological and chromosomal fetal examinations. This must lead us to better convince obstetricians and neonatologists and get more favourable practical conditions to carry out the necropsies.