Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome with variable expression. To define the range and frequency of complications in BWS, we have studied a cohort of 76 affected patients (two previously reported). The most frequent complications were macroglossia (97%), abdominal wall defect (80%) and birth weight or postnatal growth ...

The incidence of congenital heart defects in patients with Kabuki syndrome is estimated to be about 30%. To date, no specific type of heart malformation is known to be associated with the syndrome. A further 20 unselected children with Kabuki syndrome are presented. The incidence of heart abnormalities in these ...

We report a 13-year-old boy with deletion of the short arm of chromosome 18 and follicular, partially inflammatory, keratotic papules of the eyebrows, foreskin, and cheeks (ulerythema ophryogenes) as well as the shoulders, upper back, upper arms, and thighs (keratosis pilaris), initially diagnosed as atopic dermatitis. Over 100 patients with ...

We describe a male fetus with a combination of defects, including severe mandibulofacial dysostosis, holoprosencephaly, upper limb deficiency, and microgastria. These abnormalities indicate a severe defect of gastrulation/blastogenesis predominantly affecting cephalad structures. This combination of anomalies has to our knowledge not previously been described. We propose that the anomaly pattern ...

During a 39-month period, we prospectively studied the noncardiac defects (NCD) in 320 Saudi children who presented to us with congenital heart disease (CHD). Ninety NCD were detected in 80 (25%) of the 320 patients. Recognized syndromes comprised 49 (54%) of the 90 NCD; Down syndrome alone accounted for 32 ...

Six familial cases of the Beemer-Langer syndrome (BLS) were analyzed to further elucidate the spectrum and frequency of anomalies observed in this disorder. Preaxial polydactyly was found in 3/6 affected sibs, and, therefore, its frequency previously may have been underestimated. Some patients, described as infants affected with the Majewski syndrome ...

The congenital myasthenic syndromes are uncommon but challenging disorders. They can arise from presynaptic defects that reduce quantal size or alter quantal release or from postsynaptic defects that impair quantal efficiency. This article reviews the pathologic mechanisms as well as the clinical and laboratory diagnosis in the syndromes characterized to ...

We report on 10 Japanese individuals from 3 families affected with Aarskog syndrome. Pulmonary stenosis and ventricular septal defect with spontaneous closure were detected respectively, in 2 of them as an uncommon finding. A review documented 169 non-Japanese cases (2 with congenital heart defects), while of 30 Japanese individuals reported ...

The anteroposterior and the dorsoventral axes plus two semiaxes orthogonal to the median plane can give enantiomorphic positional information to the two halves of the embryo. This kind of positional information can both determine the development of bilateral symmetry and mark left and right. Left/right asymmetry may be caused by ...

A 37-week gestation male boy was born to a gravida seven para six mother by spontaneous vertex delivery at home. The baby cried at birth. On day 3 of life, he was admitted for respiratory distress. Physical examination revealed ectrodactyly, thin dry skin, anomalous tear duct with cardiomegaly. X-ray revealed ...

BACKGROUND: The Holt-Oram syndrome is an autosomal dominant condition characterized by skeletal abnormalities that are frequently accompanied by congenital cardiac defects. The cause of these disparate clinical features is unknown. To identify the chromosomal location of the Holt-Oram syndrome gene, we performed clinical and genetic studies. METHODS: Two large families ...

Asplenia syndrome is characterized by complex congenital heart defects, asplenia and abdominal heterotaxy. Recent interest in the syndrome has been increased by new knowledge arising from animal models and by continuing improvements in surgical outcome in childhood. To further elucidate the embryologic timing and mechanisms of the asplenia syndrome, 32 ...

We describe 3 sibs, their father, and paternal grandfather with amelogenesis imperfecta. In 2 sibs and the father the defect is associated with a neurological syndrome which has a wide range of phenotypic variability. The proposita has ataxia, EEG abnormalities, moderate dementia, and enamel hypoplasia. This case and the affected ...

The Kabuki make-up syndrome, reported in 1981 by Niikawa et al. and Kuroki et al. independently, is also known as "Niikawa-Kuroki syndrome". Here we report two cases of this syndrome, both of them were boys, showing facial dysmorphism, hand abnormalities and congenital heart disease. The first case had developmental retardation ...

Frank cloverleaf skull is found in approximately 4% of Apert-syndrome infants. However, the usual Apert skull and its cloverleaf form are spectral in nature. In all patients, the temporal bones are obliquely situated, and the degree to which this is so determines whether no, mild, moderate, or severe cloverleafing will ...

Primary growth hormone (GH) insensitivity (Laron syndrome) is a hereditary disease due to polymorphic defects in the GH receptor, or in the postreceptor mechanisms, leading to an inability to generate IGF-1. The clinical features and biochemical profiles are indistinguishable from isolated GH deficiency. A diagnostic feature is the lack of ...

Sparse, brittle, sulphur-deficient hair is an excellent marker for several autosomal recessive neurocutaneous syndromes. The term 'trichothiodystrophy' is commonly used in publications on such syndromes and the best characterized trichothiodystrophy syndrome is associated with skin photosensitivity and intellectual impairment. Patients with these three cardinal signs usually have an underlying DNA ...

Kartagener's syndrome is a well known classical triad of presentations consisting of bronchiectasis, sinusitis and situs inversus. It is now recognized that the syndrome is an extreme presentation of primary ciliary dyskinesia, a large group of conditions with ultrastructural ciliary defects, leading to poor ciliary motility in various organ systems. ...

We have studied 2 sibs with vertebral, radial, congenital heart, and ear defects. The second patient also had limb pterygia and meningomyelocele. The abnormalities in these two sibs are seen in the VATER association; however, distinguishing these cases from the VATER association are the findings of pterygia, meningomyelocele, and probable ...

Bilateral microphthalmia with blepharophimosis, linear lesions of dermal aplasia involving the face, and microcephaly were present in a newborn girl who died at age 9 months from cardiomyopathy resulting in ventricular fibrillation. Autopsy showed an atrial septum defect, persistent gross trabeculation of the left ventricle, and an arteria lusoria. This ...

DiGeorge syndrome (DGS) comprises thymic hypoplasia, hypocalcaemia, outflow tract defects of the heart, and dysmorphic facies. It results in almost all cases from a deletion within chromosome 22q11. We report the clinical findings in 44 cases. We propose that DiGeorge syndrome should be seen as the severe end of the ...

A search for cases of amniotic band syndrome was made in two population-based Australian birth defects registries, using defined selection criteria. Over a period of 4 years in Western Australia and 5 years in South Australia, 25 cases of amniotic band syndrome had been identified as such by the two ...

Chediak-Higashi Syndrome is an autosomal recessive disorder that affects intracellular vesicle formation. The diagnostic feature of Chediak-Higashi Syndrome is the presence of 'giant' lysosomes clustered near the nucleus. Lysosome morphology in macrophages is maintained by microtubules and microtubule-based motors, such as kinesin. Dramatic changes in lysosome morphology can be induced ...

Chediak-Higashi Syndrome is an autosomal recessive disorder, characterized by the presence of large intracellular granules, particularly lysosomes and melanosomes. While the Chediak-Higashi Syndrome is a rare disorder in humans, phenotypically similar syndromes are found in other species. Fusion of normal fibroblasts to Chediak fibroblasts complements the Chediak disorder, restoring normal ...

There are several objections to the need for the designation 'Bálint's syndrome'. The full syndrome is generally associated with a wide variety of behavioural disturbances outside Bálint's original triad that may confound the interpretation of their supposed defect. It embeds itself in the hemineglect syndrome, violating the principle of autonomy ...

This paper describes the ultrastructural alterations observed in the tracheal epithelium of six sibling swine suffering from porcine immotile cilia syndrome (PICS) compared with those in human immotile cilia syndrome (HICS). As in some human cases, the tracheal epithelium of these pigs was lined by cilia-lacking cells. A variety of ...

Ventricular septal defect (VSD) is considered one of the most common congenital heart diseases in patients with Down's syndrome. It is well known that some VSDs show a tendency to diminish in size and to close. To our knowledge, in patients with Down's syndrome spontaneous closure of a perimembranous inlet ...

1. Riboflavin-deficient practical and semi-purified diets were fed to broiler breeder hens. 2. Yolk and albumen riboflavin concentrations were depressed by the deficient diets and cases of curled toes were seen in the chicks. 3. The few instances of defective down did not resemble cases seen in field outbreaks of ...

PURPOSE: To evaluate patients with known hypogonadotropic hypogonadism, some with known anosmia, for defective rhinocephalon development that resulted in olfactory tract abnormalities, an affliction known as Kallmann syndrome. METHODS: Six patients who clinically had hypogonadotropic hypogonadism were examined by MR. Thin coronal images of the interior frontal region were used ...

Toriello-Carey syndrome is a malformation syndrome characterized by cranio-facial defects, visceral defects, congenital heart defects, hypotonia, and postnatal growth retardation. To our knowledge, only five patients with this condition have been reported. We describe another case of the Toriello-Carey syndrome extending the phenotypic manifestations of the syndrome.

A 37-year-old man with the characteristic clinical signs of Kartagener's syndrome, including bronchiectasia, chronic paranasal sinusitis, and situs inversus, was found to have immotile cilia and sperm. Electron microscopy demonstrated that the majority of cilia lacked dynein arms and radial spokes and that various defects of microorgans existed in the ...

Kohlschütter-Tönz syndrome is a central nervous system (CNS) degenerative disease with convulsions and mental regression in which the affected children present with yellow teeth due to defective enamel. We present a family in which 2 affected children (a boy and a girl) were born to consanguineous parents. This report confirms ...

The Rothmund-Thomson syndrome is a rare autosomal recessive condition. It is primarily a clinical diagnosis with manifestations that include poikiloderma, short stature, sparse hair, juvenile cataracts, small hands and feet, bone defects, photosensitivity, hypogonadism, defective dentition, onychodystrophy, and hyperkeratosis. There is only one published case of associated gastrointestinal abnormalities. We ...

We report on a girl with Tel Hashomer camptodactyly syndrome (THCS) born to first-cousin parents. In addition to the usual findings, the patient had bilateral inguinal hernia and atrial septal defect, not previously described as component manifestations of the syndrome. The present description expands the phenotypic spectrum of the syndrome ...

Over a 21-month period 200 fetal echocardiographic studies were performed on pregnancies at high risk for congenital heart disease referred to the NSW Fetal Echocardiography Service. Four cases of hypoplastic left heart syndrome were diagnosed in-utero during this period. These cases demonstrated the heterogeneity of this lesion, its known association ...

The diagnosis of tricho-dento-osseous (TDO) syndrome is often confused with that of a variant of amelogenesis imperfecta (AI) which shows similar dental features of hypomaturation-hypoplastic enamel defects and putative taurodontism. In this controlled study, an objective, biometric measurement technique was used to determine the prevalence and severity of taurodontism of ...

An apparently autosomal recessive syndrome of hereditary vitreoretinal degeneration (VRD) with retinal detachment, high myopia, and congenital encephalocele was described in 1971 by Knobloch and Layer [J Pediatr Ophthalmol 8:181-184]. Clinical confirmation of the presence of encephaloceles was lacking, and no neuropathologic studies were reported. We have evaluated a similarly ...

Holt-Oram syndrome is a rare, autosomal dominant syndrome characterized by upper extremity skeletal abnormalities and cardiac defects. The most common skeletal anomalies involve the thumbs and range from minor radiographic abnormalities to phocomelia. The most common cardiovascular abnormality is ostium secundum ASD, followed by ventriculo-septal defect and ostium primum ASD. ...

The association of congenital cataracts, microphthalmia and heart disease is well recognized in fetal rubella, but genetic causes are comparatively rare and recurrence risks are usually low. We describe a woman with an atrial septal defect, bilateral congenital cataracts, unilateral microphthalmia and minor dysmorphic features, originally attributed to an unidentified ...

The KSV model of the schizophrenias proposes that up to 70% of schizophrenics have a pathogenic allele, or abnormal expression, of the KALIG-1 gene which is located at Xp22.3. This gene encodes a nerve-cell adhesion molecule (N-CAM) like protein, and is deleted in 66% of patients with Kallmann's syndrome, anosmia ...

Three new patients with the Baller-Gerold syndrome bring the number of reported cases to 20. In addition to craniosynostosis involving various sutures and preaxial reduction defects of variable severity, affected patients may have anal, urogenital, cardiac, central nervous system, and vertebral defects. Autosomal recessive inheritance is supported by the presence ...

Limb reduction defects (LRD), reported to the Congenital Malformations Registry in upstate New York between 1983-1987, were investigated in terms of LRD classification, parental demographics, and LRD characteristics. After excluding LRD with chromosome abnormalities, we followed guidelines developed by the European Congenital Anomaly Surveillance Consortium (EUROCAT) to classify 271 LRD ...

We describe a sclerodermatous syndrome in a middle-aged man who had worked with a wide variety of organic solvents over a prolonged period. Associated changes included cold sensitivity, a restrictive lung defect, peripheral neuropathy, oesophageal dysfunction, labile hypertension and a monoclonal paraproteinaemia. This unique syndrome is discussed in relation to ...

Focal dermal hypoplasia (Goltz syndrome) is a rare congenital syndrome with suspected X-linked transmission that is characterized by a wide range of mesoectodermal defects. We describe a 39-year-old woman who had a peculiar phenotype and asymmetry of the body. Examination revealed atrophic erythematous and hyperpigmented linear streaks following Blaschko's lines, ...

Fourteen young patients with Down's syndrome (nine males, five females, age range 8-30 years) were studied. 99Tcm-hexamethylpropylene amine oxime (HMPAO) brain single photon emission computed tomography (SPECT) was performed to evaluate regional cerebral blood flow (rCBF). Two experienced nuclear medicine physicians analysed the results of the SPECT by visual interpretation. ...

A patient with Cantrell's syndrome is presented with ectopia cordis, ventricular septal defect and a left ventricular as well as a right ventricular diverticulum. One-stage correction was performed with resection of both diverticula. Closure of the ventricular septal defect was complicated due to exposure problems as a result of the ...

The genetic, biochemical, clinical and endocrinological features of syndromes associated with androgen resistance (insensitivity) are described. The clinical appearance of these syndromes covers the whole spectrum of phenotypically female patients to normal appearing men with infertility. In these disorders testosterone formation and regression of the Müllerian duct derivates are normal, ...

Pili torti is a rare hair shaft abnormality in which the hair is flattened and intervals twisted at irregular through 180 degrees about its axis. Pili torti may occur as a congenital defect or as an acquired disorder (secondary to patchy alopecia from a variety of causes). When it is ...

A patient with the diagnosis of Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II) and interstitial 8q deletion was also noted to have persistent cloaca and prune belly sequence. This is the first report of this association. If it postulated that these latter embryonic defects may be due to the chromosome abnormality, ...

Morning glory syndrome is a congenital anomaly of the optic disc in which the disc is enlarged and excavated, with white glial tissue in the center. A case is presented of morning glory syndrome associated with sphenoid encephalocele, median cleft lip, and agenesis of the corpus callosum. A 22-day-old boy ...