摘要:

Four patients with Prader‐Willi syndrome, diagnosed in the neonatal period and followed during the first year of life, are reported. There were three males and one female. All four patients presented with hypotonia and distinct craniofacial dysmorphism. Prometaphase chromosome analysis showed interstitial deletion of 15q in all of them. The placentae and umbilical cords were examined in three of the patients and found normal. Electromyography done in the neonatal period suggested primary myopathy. Height, weight and head circumference were normal at birth in all patients. Hand and foot measurements showed normal size at birth and during the first year of lif

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02923.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

Renal angiomyolipomas were present in 23 out of a series of 38 patients with proven tuberous sclerosis (60.5%). Multiplicity and bilateral localization of combined renal angiomyolipomas were important differences between this category and the isolated, usually solitary, angiomyolipomas. One of the parents of a patient with tuberous sclerosis had small renal angiomyolipomas without signs of tuberous sclerosis. This indicates that renal angiomyolipomas might be a forme fruste of tuberous sclerosis. Two patients with suspected isolated renal angiomyolipomas proved to have tuberous sclerosis. From this study we can conclude that multiple angiomyolipomas, or a combination of a single renal hamartoma with one of the signs suggestive of tuberous sclerosis, warrant a thorough examination to exclude tuberous sclerosis.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02924.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

The Jewish religion permits abortion up to 40 days after conception. To accommodate the Jewish orthodox community, prenatal diagnosis in the eighth gestational week may be a feasible goal with clear benefits. We present our experience with chorionic villus sampling (CVS), wherein out of 144 patients requesting CVS, 125 were found to be suitable for the procedure. Excluding patients with fundal placenta and cervical or uterine myoma, chorionic sampling was successfully performed on 102 out of 106 patients (96.2%) and a chromosome result was available for 98 of those patients (96%). Fetal losses, within 14 days following procedure, were 2 out of 125 (1.6%). No complications were encountered following the procedure. The cytogenetic analysis was improved by culturing CVS fragments for 48 h, after which clearer banding patterns could be observed. One of the CVS preparations, from a 7.2/7‐week‐old embryo was successfully examined. Short‐term (6 days) cultures were used as an additional method for chromosome analysis, to extend and confirm results obtained by the direct m

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02925.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

Severe Sillence type II/III Osteogenesis imperfecta (OI) is a lethal or severely crippling disease with either autosomal dominant or recessively inherited type I collagen mutations. Here we describe the detailed clinical features of a thin‐ribbed OI variant with deformed limbs. The three consecutively affected children showed no genetic linkage with either of the two type I collagen genes, which implies that a novel mechanism causes this clinical phenotype. It can be prevented using ultrasound to diagnose affected foetuse

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02926.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

The name Fryns syndrome was given to a new variable multiple congenital anomaly syndrome, almost always lethal, described in 1978, and now known to be autosomal recessive. Since that date, 20 patients have been reported in the literature. We describe 8 new cases, 6 of which were diagnosed in a series of 112276 consecutive births (livebirths and perinatal deaths). The prevalence of this syndrome can be estimated to be around 0.7 per 10000 births. These new cases confirm that the most frequent anomalies are diaphragmatic defects, lung hypoplasia, cleft lip and palate (often bilateral), cardiac defects (septal defects and aortic arch anomalies), renal cysts (type II, III or IV), urinary tract malformations, and distal limb hypoplasia. Most patients also have hypoplastic external genitalia and anomalies of internal genitalia (bifid or hypoplastic uterus, immature testes). The digestive tract is also often abnormal: duodenal atresia, pyloric hyperplasia, malrotation and common mesentery are present in half of the patients. When the brain was examined, more than half were abnormal (Dandy‐Walker anomaly and agenesis of corpus callosum). A few patients demonstrated cloudy cornea. We examined the eyes of three patients histologically: two of them showed retinal dysplasia with rosettes and gliosis of the retina, thickness of posterior capsula of lens and irregularities of the Bowman membrane. Four of our cases were diagnosed prenatally between 24 and 27 weeks. It is to be expected that prenatal diagnosis will be made often and earlier in the future, as the spectrum of anomalies of the Fryns syndrome can easily be evidenced by sonograph

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02927.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

A patient with familial angiolipomatosis in whom an autosomal dominant mode of inheritance could be established is described. This patient also had coincidental autosomal dominant polycystic kidney disease.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02928.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

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 dysp

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02929.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02930.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02931.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02932.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY