Klippel-Feil Syndrome (KFS) is characterized by congenital vertebral fusion believed to result from faulty segmentation along the embryo's developing axis. KFS appears to be a heterogeneous disease often associated with craniofacial malformation. Here we provide the first evidence of a familial KFS gene locus on 8q, where an inv(8)(q22.2q23.3) has ...

Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome characterized by diaphragmatic hernia, unusual facies, and distal limb hypoplasia. It was first reported as a lethal condition. We report on a three-year-old survivor with Fryns syndrome, and provide a review on the outcome of other survivors. Patients who survive ...

A patient with multiple congenital malformations, including imperforate anus, bilateral cryptorchidism and microphallus, is described. At 4 months of age the infant had generalized convulsions and hypoglycaemia. Bilateral hydronephrosis was diagnosed at 8 months of age. At 10 months he was diagnosed as having panhypopituitarism secondary to anterior pituitary hypoplasia, ...

Absence or hypoplasia of the tibia has been reported to occur as an isolated hereditary malformation as well as a feature of several autosomal recessive and autosomal dominant syndromes. We report three sibs with absence or hypoplasia of the tibia in association with other malformations whose parents are first cousins ...

We describe neonatal onset of a lethal multiorgan deficiency of carnitine palmitoyltransferase II (CPT II) associated with dysmorphic features, cardiomyopathy, and cystic dysplasia of the brain and kidneys. Concentrations of long-chain acylcarnitines were evaluated in blood and multiple tissues, diffuse lipid accumulation was present at autopsy, and a profound deficiency ...

The authors describe the case of a young African girl born with a radial club hand associated with a pedicled floating thumb, no other orthopaedic malformation was detected. A ventricular septal defect necessitated surgery in emergency. In front of such malformative association, the Holt-Oram syndrome has been evoked. The aim ...

The bilateral temporal bones of a deceased 84-year-old man who had been suffering from Usher syndrome were examined using light microscopy. Histopathologic examination disclosed degeneration of the organ of Corti that was most profound in the basal turn, degeneration of cochlear neurons in all of the turns, and severe loss ...

Shrinking and atelectatic pulmonary processes--atelectasis syndrome--and lobar emphysema show morphological similarities: congenital malformations of the bronchial structure, external compression of the bronchi as well as inflammatory processes. Ventilation mechanics determine whether in the described processes an atelectasis or an emphysema manifests itself clinically. Usually, one finds over-expansions in connection with ...

Pulmonary arteriovenous malformation (PAVM) is usually seen as a well-circumscribed cystic mass. In this communication we describe a diffuse arteriovenous malformation in a 5-month-old infant. The lesion was seen only at the microscopic level and was associated with abdominal heterotaxy, atrial situs solitus, polysplenia, interrupted inferior vena cava, atrial septal ...

A 5-month-old girl with Marden-Walker syndrome is presented. This is a rare autosomal recessive syndrome. So far, approximately 20 cases have been described in the literature. The patient was hospitalized because of difficulty in feeding and slow spontaneous movements. Her parents were first cousins. She was diagnosed with clinical findings ...

The sebaceous nevus syndrome is sometimes associated with hemimegalencephaly and a group of related abnormalities including ipsilateral gyral malformation, mental retardation, seizures, especially infantile spasms, and facial hemihypertrophy. This combination has been described as the "neurological variant of epidermal nevus syndrome." Other brain malformations have been reported only rarely. We ...

We studied the frequency and pattern of tooth agenesis in a Danish population with Down syndrome, trisomy 21 (46 females and 54 males). The control group consisted of a normal Danish population (2424 females and 2431 males) [Rølling, 1980: Scand J Dent Res 88:365-369; Ravn and Nielsen, 1973: Tandlaaegebladet 77:12-22]. ...

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a partial or complete absence (agenesis) of the uterus with an absent or hypoplastic vagina. Until now, the recommended treatment, when resection of a rudimentary horn was indicated, was laparotomy. We report a case of MRKH syndrome in which the patient benefited from laparoscopic surgery for ...

The Meckel syndrome (MS) is an autosomal recessive disorder classically defined by the triad of occipital encephalocele, multicystic kidneys, and polydactyly. Here we describe 3 sibs with varying manifestations of MS. The propositus had isolated cystic renal disease. The other sibs were both prenatally diagnosed with renal disease, polydactyly, and ...

Hundreds of syndromes may be associated with hearing impairment. Within recent years, there has been heightened research and clinical interest in hearing and syndromes, probably due to both advances in molecular genetics and improved techniques for auditory assessment of infants and young children. An example of the current appreciation for ...

Two unrelated children with developmental delay, anterior chamber-cleavage disorder, proportionate short stature and striking similarity in facial appearance appear to have an identical syndrome. Peters' plus syndrome has to be considered but additional abnormalities not described in this syndrome and their apparently different facies may be evidence for a hitherto ...

Hydromyelia, or hydrosyringomyelia is frequently associated with the Chiari I malformation of the cerebellar tonsils. Descent of the cerebellar tonsils is considered a congenital anomaly with a few reports of 'acquired' Chiari I malformation. We report a patient with a giant craniopharyngioma and hydrocephalus who at presentation had a concomitant ...

Both Fukuyama-type congenital muscular dystrophy (FCMD) and Walker-Warburg syndrome (WWS) are unusual genetic syndromes consisting of congenital muscular dystrophy and complex malformations of the brain and eye. It has been intensively discussed whether FCMD and WWS belong to the same disease entity or not. We analyzed a family in which ...

Cache Valley Virus (CVV) is a causative agent of a mosquito-borne disease syndrome of sheep and, possibly, of all ruminants, characterized by embryonic and fetal death, stillbirths, and multiple congenital malformations. CVV is endemic in Canada, Mexico, and the United States. Several related Bunyaviruses also may play a role in ...

Treacher Collins syndrome is a complex congenital malformation. The most important manifestations of this syndrome are hypoplastic or absent malar bone, centrofacial over-projection, eyelid coloboma, and micrognathia. This article presents an approach to re-establish the right centrofacial proportions through "flattening osteotomies" of the maxilla, malar bone reconstruction, and other maxillo-mandibular ...

A 73-year-old man developed acute, painful, ophthalmoplegia. The pain improved with oral steroids and a diagnosis of Tolosa-Hunt syndrome was made. Review of his angiogram revealed a low flow dural arteriovenous shunt that drained posteriorly. Dural arteriovenous shunts may thus be another cause of "sinister" Tolosa-Hunt syndrome.

Tetrasomy 12p (Pallister-Killian syndrome) is a mosaic aneuploidy syndrome in which the isochromosome is present in amniocytes with a much greater percentage than fetal lymphocytes. Two new cases identified by prenatal diagnosis are reported. Indications for prenatal diagnosis were advanced maternal age and fetal anomalies. The most consistent reported prenatal ...

Gorlin's syndrome, also known as multiple basal cell carcinoma syndrome, is a familial tumor condition with autosomal-dominant inheritance. Patients develop multiple basal cell carcinomas beginning in childhood. They also have a typical dysmorphic facies, skeletal malformations, and a particular type of epithelial cyst of the jaws. Recent evidence localizes a ...

Hemifacial atrophy (Parry-Romberg syndrome) is a rare but well-recognized condition. The developmental effects on facial and oral structures have been well documented in the literature. However, the etiology of hemifacial atrophy remains unknown. Previous reported alterations in tooth growth and development include delayed tooth eruption, abnormal root morphology, and malocclusion ...

BACKGROUND: Beckwith-Wiedemann syndrome is a genetically complex congenital disorder with variable clinical features at birth, including malformations, excessive body and/or organ growth, and endocrine dysfunction. Both maternal gestational proteinuric hypertension and placental abnormalities have been reported infrequently in Beckwith-Wiedemann syndrome, but the occurrence of three cases with both features at ...

Twenty-two cases of double-chambered right ventricle studied in detail from two different centers comprise the study population. Of these, 5 have trisomy-21 Down's syndrome; these five cases, comprising nearly 25% of the entire study group, were essentially evenly divided between the two centers. This unexpectedly high percentage of Down's syndrome ...

Kallmann syndrome is a rare combination of hypogonadotropic hypogonadism due to hypothalamic insufficiency and anosmia. In both patients treated at our institution for infertility, a malformation of the uterus was noted: one patient had a unicornuate uterus, the other a uterus with a fundal hypoplasia and tubes of approximately 9 ...

Walker-Warburg syndrome (WWS) is a lethal, autosomal recessive disorder characterized by Type II lissencephaly, retinal malformation, cerebellar malformation, and congenital muscular dystrophy. We report on 3 sibs with WWS born to a consanguineous couple. The fetal hydrocephalus associated with this syndrome, while not consistent or necessary for diagnosis, is the ...

Angiodysplastic syndromes include a vascular malformation which may often be associated with secondary changes such as further vascular abnormalities, soft tissue and bone hypertrophy. One of the best known is the syndrome triad originally described by Klippel and Trenaunay, which includes a unilateral capillary malformation, ectatic veins and osseous and ...

We describe the ultrasound findings of polycystic pancreas with short rib dwarfism in the early second trimester. Radiologic, morphologic, and histologic examination after pregnancy termination confirmed the findings and also disclosed dysplastic kidneys. The skeletal anomalies are similar to those in Verma Naumoff type of short rib polydactyly, but the ...

A computerized dysmorphology database is useful for the pediatrician and geneticist in the task of diagnosing multiple malformation syndromes in children. We set up a new dysmorphology database "Computerized Dysmorphology Database Mackay (CDDM)" managed by the Clipper program. At present 278 disease entities with their clinical features and references are ...

Splenic anomalies frequently accompany conotruncal and atrioventricular septal malformations. Asplenia is a major factor in the mortality of newborns with the heterotaxy syndrome, requiring an early and accurate diagnosis. We evaluated the splenic status of five consecutive patients with heterotaxy syndrome by radionuclide splenic scanning with 99mTc-labelled and denatured red ...

A Jordanian baby girl, born prematurely at 36 weeks gestation, was found to have myelomeningocele associated with duplication of the rectum, urinary bladder, ureters and vagina. This is most likely to have resulted from duplication of the cloaca during early development. The case demonstrates that duplication of the cloaca, albeit ...

Jarcho-Levin syndrome (JLS) is a condition manifested by malformations of vertebral bodes and related ribs. There are two major subtypes spondylocostal dysostosis and spondylothoracic dysostosis, with different survival rates, associated malformations, and inheritance patterns. We have experienced an autopsy case of a premature female fetus with multiple congenital anomalies. She ...

We report on a male infant with Brachmann-de Lange syndrome (BDLS) and ulnar hemimelia and monodactyly but also absence of both tibiae, the right distal femur being bifurcated. One similar observation was published earlier. The question is raised whether these malformations are coincidental or a rare component of BDLS.

Type II lissencephaly is a rare cortical malformation associated with a number of clinical syndromes, including Walker-Warburg syndrome and some forms of congenital muscular dystrophy. The neuropathology of a 20-week fetus is described showing the pathogenesis of the malformation, which appears to result from abnormal migration of neurons through the ...

Ocular symptoms are frequently observed in Walker-Warburg (WWS) and associated syndromes. The majority of patients present with malformations of the anterior segment and severe retinal dysplasia. We report on the findings in a female patient with WWS who died at the age of 9 months. Major ocular findings were: severe ...

The Dandy-Walker malformation and craniosynostosis have each been described as isolated occurrences and as components of multiple malformation syndromes. The purpose of this report is to delineate the characteristics of a multiple malformation syndrome of Dandy-Walker malformation and sagittal craniosynostosis. The inheritance pattern appears to be autosomal dominant.

We report on sibs of both sexes with a multiple malformation syndrome of cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers. The older boy died in a tonic extension spasm at age 4 months. When discharged, the younger girl was 3.5 months old. This appears to be ...

I report 2 unusual cases of Proteus syndrome that support the concept of somatic mosaicism. In one patient, a huge connective tissue nevus covered the chest and abdomen and hyperostoses of the calvaria were observed. In the other patient, linear verrucous epidermal nevi, epibulbar dermoids, and hyperostoses were found. No ...

We report on a stillborn male infant with a mosaic ring 13 karyotype (45,XY,-13/46,XY,-13,+r(13)) with apparent aprosencephaly and clinical findings similar to those reported previously in the XK-aprosencephaly syndrome. Findings of patients with r(13) are often similar to those seen in individuals with del(13q). This case was unusual because of ...

Pallister-Hall syndrome is a usually lethal dysplasia/malformation syndrome characterized by hypothalamic hamartoblastoma, hypopituitarism, postaxial polydactyly, craniofacial malformations, imperforate anus, and other malformations. We report a familial case in a male infant and his female sib fetus, suggesting autosomal recessive inheritance, or germinal mosaicism for an autosomal dominant mutation, or a ...

Congenital malformations may present as meningitis caused by enteric organisms, but this is extremely rare and occurs almost exclusively in the paediatric population. We report an unusual case of a young man with chronic constipation presenting with spontaneous Gram-negative meningitis due to an underlying congenital spinal malformation known as the ...

In 1971 and again in 1977, Costello reported on two unrelated children with multiple congenital malformations associated with growth and developmental retardation and nasal papillomata (Costello, NZ Med J 74:397, 1971; Costello, Aust Paediatr J 13:114-118, 1977). Subsequently, two similar cases were described (Der Kaloustian et al., Am J Med ...

We report on a boy with several findings of the Meckel syndrome, such as hepatic fibrosis, polycystic kidneys, post-axial hexadactyly, and genital abnormalities, but a Dandy-Walker malformation rather an occipital meningocele. Progressive deterioration of renal function beginning at 37 months led to death at 43 months. Both Dandy-Walker malformation and ...

Fourteen cases of Robinow syndrome are described with special emphasis on dermatoglyphics and hand malformations (split hands were detected in two, ectrodactyly with nail hypoplasia in one and hypoplastic extra middle finger in another one). Dermatoglyphic studies were performed on ten cases. Increased whorl patterns of the finger tips and ...

Various congenital cardiac malformations have been described in patients with Beckwith-Wiedemann (BW) syndrome, including reversible obstructive subaortic stenosis in one patient. We herein present a case of a 2.5-year-old black boy with BW syndrome and discrete subvalvular aortic stenosis of the membraneous type. Such association of these two entities has ...

Three fetuses with TAR (thrombocytopenia with absent radii) or TAR variant syndrome were found to be thrombocytopenic during the third trimester of the pregnancy. These findings indicate that fetal blood sampling, besides ultrasonography, skeletal radiographs, or even fetoscopy, may indeed contribute to the prenatal diagnosis of TAR syndrome, and thus ...

We report on a newborn male, born at term with clinical manifestations of oral-facial-digital (OFD) syndrome type I. This syndrome is generally assumed to be inherited in an X-linked dominant fashion with lethality in males. Therefore, liveborn males are exceptional. This liveborn male also had Dandy-Walker malformation and polycystic kidneys. ...

An eight-month-old girl with infantile spasms and apparent blindness had electroencephalographic findings compatible with Aicardi syndrome. In addition to optic nerve hypoplasia, there were multiple congenital retinal malformations in the right eye, including chorioretinal lacunae, anomalous retinal vessels, posterior scleral ectasia, and a peripheral fibrous ridge. Magnetic resonance imaging demonstrated ...