The Smith-Lemli-Opitz syndrome (SLO) is an autosomal recessive disorder characterized by dysmorphic facial features with abnormal limbs and genitalia. Two forms have been recognized based on clinical course and severity: the classical SLO (type I) and the lethal acrodysgenital syndrome (type II). Type I SLO has been recently ascribed to ...

We describe an uncommon association: atrial septal defect with an anomalous left coronary artery originating from the pulmonary trunk (Bland-White-Garland syndrome) in a 2-month-old patient with Klinefelter syndrome. Electrocardiogram and two-dimensional echocardiogram were not typical of Bland-White-Garland syndrome in this patient which delayed the diagnosis.

From 1974 until 1995 a total of 264 (141 male, 123 female) patients born with an anorectal malformation (ARM) were referred to the University Hospital Nijmegen in the Netherlands. All additional congenital defects (ACDs) were registered. Special attention was paid to whether the ACDs take part in associations, syndromes, or ...

In this article I present two children with Larsen syndrome who required anesthetic care during surgical procedures of the ear-nose-throat (ENT) region. The anesthetic implications of this disorder are discussed. Larsen syndrome consists of multiple joint dislocations and a characteristic facies. Associated orthopedic abnormalities include cervical spine vertebral body hypoplasia ...

Thrombocytopenia-absent radius (TAR) syndrome is an autosomal-recessive disorder characterized by a thrombocytopenia and a bilateral radial aplasia with normal thumbs. Only TAR syndrome, out of diseases which may present with radial aplasia, typically has normal thumbs. The prenatal diagnosis is rarely made. We report two observations of TAR syndrome diagnosed ...

The Dubin-Johnson syndrome is characterized by an inherited defect in the secretion of amphiphilic anionic conjugates from hepatocytes into the bile. We have recently identified the membrane protein mediating the adenosine triphosphate (ATP)-dependent transport of glutathione and glucuronate conjugates as a multidrug-resistance protein (MRP) and localized it to the canalicular ...

On the basis of our studies, we postulate that suture formation in Apert syndrome is related to the relative maturity of abutting calvarial bones. The fused coronal suture, a consistent manifestation at birth, develops first because the ossification centers of the frontal and parietal bones are in intimate contact early ...

OBJECTIVE: Pendred's syndrome is an association between congenital neurosensory deafness and goitre with abnormal discharge of iodide following perchlorate challenge, indicating a defect of iodide organification. Although Pendred's syndrome may cause up to 7.5% of all cases of congenital deafness, the molecular basis of the association between the hearing loss ...

Exactly 100 years ago, in 1896, Pendred first described the association of congenital deafness with thyroid goitre (MM#274600). The incidence of Pendred syndrome is estimated at 7.5-10/100,000, and may be responsible for as much as 10% of hereditary deafness. The cause of the congenital deafness in Pendred syndrome is obscure, ...

We carried out a retrospective study of 71 patients with congenital non-hemolytic hyperbilirubinemia who had been treated at our institution over the 25 years from 1965 to 1990. Twenty patients had Gilbert's syndrome, 1 had Crigler-Najjar syndrome, 1 had new type unconjugated hyperbilirubinemia, 21 had Dubin-Johnson syndrome, and 28 had ...

We report on prenatal and postnatal findings in 4 consecutive fetuses with a pattern of severe congenital anomalies who were born to a healthy nonconsanguineous couple. The spectrum of malformations includes diaphragmatic defects, hypoplastic lungs, omphalocele, limb deficiencies, syndactyly of toes, and ossification defects of the skull. This specific spectrum ...

The blepharophimosis-ptosis-epicanthus inversus syndrome is characterized by shortening of the horizontal orbital fissure (blepharophimosis), congenital ptosis and epicanthus inversus. The condition may occur either as an autosomal dominant trait (blepharophimosis-ptosis-epicanthus inversus syndrome types 1 and 2), or sporadically. Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 is associated with female infertility. Mental subnormality ...

Patterns of brain dysgenesis that resemble those in the Zellweger syndrome were demonstrated in a boy with an isolated defect of the peroxisomal bifunctional enzyme. There was bilateral centrosylvian pachygyria and polymicrogyria, diffuse hemispheric hypomyelination with heterotopic neurons, Purkinje cell heterotopias, and simplified convolutions of the dentate nucleus and inferior ...

A case of hypoglossia-hypodactylia syndrome is described. The infant was characterized by micrognathia, accompanied by a defect of the gingiva, and hypoplasia of the tongue. There was defect in the right arm below the elbow. The right foot manifested syndactyly of the great, second and third toes and osseous fusion ...

A case of Hajdu-Cheney syndrome with acro-osteolysis of the left hand, bizarrely shaped skull, early eruption of permanent teeth and ventricular septal defect is presented. Biochemical investigations revealed high levels of acid phosphatase. The child was treated routinely and the lower primary central incisors were extracted due to early lingual ...

Exomphalos carries a 67% chance of other serious defects, 37% of which are life-threatening. Diagnosis in utero means parents can be counselled and offered choices of treatment. Parents need long-term support if their baby has a syndrome or other abnormalities. Babies that survive do well and most lead normal lives.

Pendred's syndrome is manifested by congenital sensorineural deafness in association with familial goiter due to defective organic binding of iodine in the thyroid gland. The majority of patients with Pendred's syndrome are euthyroid. We report on an unusual case of a patient with Pendred's syndrome presenting with amenorrhea and late-onset ...

Bilateral ulnar agenesis is a rare abnormality. A total of 36 cases are analyzed: 35 of these are documented in the literature and 1 stillborn male is presented in this study. Most patients had one of the three conditions: Al-Awadi/Raas-Rothschild syndrome, syndrome of ulnar aplasia with split hand/split foot deformity, ...

This pictorial essay illustrates abnormalities of the hands and feet that sonography depicts and describes their associations with chromosomal abnormalities, syndromes, and other pathology. Examination of the extremities, although not listed in the guidelines of the American Institute of Ultrasound in Medicine for standard obstetric sonography, is a critical adjunct ...

An expanded polytef (polytetrafluoroethylene [ePTFE]) soft-tissue patch was used in nine patients to reconstruct postparotidectomy defects and prevent Frey's syndrome. All nine cases were constructed primarily using either a 1- or 2-mm-thick patch depending on the depth of the defect. All nine patients achieved excellent, nearly normal contour that approximates ...

In the Baltimore-Washington Infant Study, a regional case-control study of 4,390 liveborn infants with cardiovascular malformations (CVM), 642 patients (14.2%) had outflow tract abnormalities, with extracardiac defects in 157 (approximately 25%) of them. Associated defects were found in 1/3 of patients with normal great arteries, but only in 1/10 of ...

The finding of men with living but immotile sperm tails has initiated a search for the cause of the disorder. The sperm tails were found to lack dynein arms or to have some other ultrastructurally visible defect and the cilia were found to have the same defects. The disorder was ...

BACKGROUND: Romano-Ward syndrome is a rare, autosomal-dominant cardiac conduction defect associated with syncope and life-threatening ventricular arrhythmia in children and adults. CASE: A fetus was noted to have moderate fetal bradycardia in the antenatal period. When studied postnatally, the child was found to have Romano-Ward syndrome. CONCLUSION: This is the ...

We report an association of trigonocephaly and thumb hypoplasia in a 6.5-year-old boy, diagnosed as Baller-Gerold syndrome. In addition to craniosynostosis and radial limb defect, which are constant in this syndrome, our patient presents two unusual features: the first is an epidermal nevus and the second is an agenesis of ...

A female patient with orofaciodigital syndrome type I associated with pachygyria, heterotopic gray matter, interhemispheric cyst, agenesis of the corpus callosum, and a Dandy-Walker anomaly is reported. Because some of these defects have been described in patients with different types of orofaciodigital syndromes, we recommend caution when using neuroradiologic criteria ...

Tail stump syndrome, which may be associated with primary ciliary dyskinesia, is also associated with morphological defects of the flagellum resulting in severe asthenozoospermia. Until recently, these morphological anomalies caused definite male infertility. Today, however, new methods such as micromanipulation techniques provide a rational therapy for this patient group. A ...

Gerstmann's syndrome encompasses the tetrad of finger agnosia, agraphia, acalculia and right-left confusion and is associated with lesions of the dominant angular gyrus. The localizing value of this syndrome has been questioned because multiple mechanisms can account for each of the components of the syndrome. We present the case of ...

A new hair shaft defect, helical hair, is presented. This hair abnormality was found to accompany trichorrhexis invaginata and pili torti in an infant with Netherton's syndrome. The patient's main clinical features included erythroderma since birth, failure to thrive, recurrent infections, hepatosplenomegaly, lymphadenopathy, eosinophilia, hypergammaglobulinemia, and high serum IgE levels. ...

The oral-facial-digital syndromes (OFDS) comprise a group of heterogeneous genetic disorders. Considerable clinical overlap exists within the nine described types [Toriello, Clin Dysmorph 2:95-105, 1993], and with other entities such as Pallister-Hall (PH) syndrome and hydrolethalus syndrome, leading to difficulties in the classification of OFDS. We report on two brothers ...

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, ...

The term congenital dyserythropoietic anaemia (CDA) designates a group of rare but well defined erythrocytic disorders. Type I is defined by macrocytosis and megaloblastic changes of the bone marrow cells. Two unrelated children with CDA are described with associated defects: absence of nails and short or absent phalanges, polysyndactyly of ...

To investigate the relationship between congenital heart disease and jugular lymphatic obstruction as manifested in web neck anomaly, we used the Iowa Birth Defects Registry to determine the incidence of congenital heart defects (CHD) in infants with and without web neck. Sixty percent of infants with web neck had CHD, ...

Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. A DiGeorge syndrome patient bearing a balanced translocation whose breakpoint maps within the critical region has ...

We describe a stillborn girl with an unclassified form of mandibulofacial dysostosis, a postaxial defect of the right, and a preaxial defect of the left hand. The Nager syndrome is characterized by preaxial limb defects, whereas the Genée-Wiedemann syndrome (= Miller syndrome) by postaxial limb defects. We briefly review the ...

Congenital heart disease occurs in 35-50% of patients diagnosed with Noonan syndrome. We present an infant with an unusual combination of congenital heart defects not previously reported, including partial atrioventricular septal defect, polyvalvular dysplasia, and progressive hypertrophic cardiomyopathy. We discuss the possible interaction between these lesions that may have led ...

BACKGROUND: Heart-hand syndromes compose a class of combined congenital cardiac and limb deformities. The proto-typical heart-hand disorder is Holt-Oram syndrome, which is characterized by cardiac septation defects and radial ray limb deformity. We have recently mapped the Holt-Oram syndrome gene defect to the long arm of human chromosome 12 in ...

At least two isoforms of 11 beta-hydroxysteroid dehydrogenase (11 beta-OHSD) have been identified, and clinical studies have illustrated their physiological and pathological significance. In the kidney, a high affinity 11 beta-OHSD2 inactivates cortisol to cortisone and protects mineralocorticoid receptors from cortisol. In the liver, a low affinity 11 beta-OHSD1 converts ...

WT syndrome, an autosomal dominant condition, combines hematological abnormalities with mild lib defects. Anemia, pancytopenia, leukemia and lymphoma can occur at varying ages from childhood to middle age. Limb defects include ulnar and radial defects, bifid or hypoplastic thumbs and cutaneous syndactyly. Castleman disease is characterized by tumorous masses of ...

The aim of this study was to evaluate the prevalence of congenital anomalies in 19 areas from 13 European countries. A total of 291,126 births were surveyed. On average most of the anomalies were recorded in livebirths. The total prevalence of congenital anomalies was 21.8 per 10,000 births. Four groups ...

A classical case of Werner's syndrome is described. In addition to the numerous skin changes that are typically associated with Werner's syndrome, our patients also displayed diffuse lentiginosis, and several of the clinical features of leopard syndrome. Histopathological and ultrastructural findings from a hyperpigmented macule displayed the typical features of ...

Excavated defects of the optic disc have been associated with retinal detachment in the macula and beyond. Included among these defects are congenital pits of the optic disc, optic nerve colobomas, and the morning glory syndrome. We report eight consecutive patients with congenital, excavated defects of the optic disc and ...

Significant hearing loss and external pinna malformations are two of the most common defects evident in Down's syndrome. The external and middle ears are linked embryologically, both arising from the first and second branchial arches. Evidence indicates that the majority of hearing loss in Down's syndrome is conductive in nature, ...

The triad of abnormalities of the prune belly syndrome may arise simply from the effects of early urethral obstruction or alternatively from a basic defect of the mesoderm from which the triad of abnormalities develops. The urethra and genital tract of 21 prune belly syndrome specimens and 23 specimens of ...

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 ...

A blind study was designed to test the hypothesis that some persons with a relatively rare cardiac malformation, pulmonary atresia with ventriculoseptal defect (PA/VSD), have a recognisable phenotype. Fourteen patients with cyanotic congenital heart lesions were examined by dysmorphologists blinded to the type of cardiac malformation. Six children were judged ...

Xeroderma pigmentosum, Cockayne syndrome, the xeroderma pigmentosum-Cockayne syndrome complex, and trichothiodystrophy cells have defects in DNA repair and are associated with clinical and cellular hypersensitivity to ultraviolet radiation (UV). Familial dysplastic nevus syndrome cells have UV hypermutability. Although xeroderma pigmentosum and dysplastic nevus syndrome have markedly increased cancer risk. Cockayne ...

The acronym DOOR was first used by Cantwell in 1975 to describe a syndrome comprising sensorineural deafness, osteodystrophy, onychodystrophy, and mental retardation. To date, 16 cases of the syndrome have been documented in the literature. We present two sisters who died in early infancy with the clinical features of DOOR ...

We performed serial cranial MRI examinations on an 11-year-old boy with Kearns-Sayre syndrome. Proton density (PD)-, T2-weighted and T2-weighted fluid attenuated inversion recovery (FLAIR) sequences revealed progressive high signal intensity areas in the brainstem, globus pallidus, thalamus, and white matter of the cerebrum and cerebellum bilaterally. The probable gliotic lesions ...

A baby is described with 45,X/46,XX,i(21q) mosaicism. DNA analysis indicated that the abnormality arose from two independent postzygotic mutations in a 46,XX zygote, involving the paternal chromosomes 21 and X. In agreement with previous reports, most of the clinical dysmorphisms observed were consistent with Down syndrome. Moreover, congenital heart disease ...

A partial or complete defect of the cerebellar vermis may occur sporadically or as a component of the Dandy-Walker syndrome, the Dandy-Walker variant, Down's syndrome, or Joubert-syndrome. We identified a defect of the cerebellar vermis in nine fetuses on routine antenatal sonographic studies. In five of the nine fetuses other ...