Fifteen patients with Crouzon syndrome were evaluated for abnormalities of hand bone length via metacarpophalangeal pattern profile analysis. Data from this group were compared to that from a normal control sample. A discriminant function, utilizing Z scores based on the lengths of three hand bones, was derived and distinguished between ...

In addition to the typical triad of the prune belly syndrome, comprising abdominal wall muscle deficiency, urinary tract dilatation and cryptorchidism, anomalies of the lower urinary tract and genitalia can occur. Between January 1974 and December 1978 we evaluated and treated 19 boys with prune belly syndrome. All boys had ...

To improve the results after surgical treatment of the lower legs' lymphedema, a new approach was developed by surgical ligation of the abnormal arteriolovenular shuntings. (Hyperstomy Syndrome). These findings are very common in congenital and postphlebitic lymphedemas. The abnormal branchings are easily localized by serial arteriography. The excision techniques like ...

Two children, aged 18 months and 3 years, with the congenital varicella syndrome are described. Neuropathic bladder and lax abdominal wall musculature were present in one case. In the other, paralysis and marked hypoplasia of one arm, and an ipsilateral Horner's syndrome, were the main abnormalities. Extensive skin scarring corresponding ...

The clinical and neuropathologic findings of five cases of Pick disease were studied. All had severe anterior temporal atrophy and abnormal neurons with highly argyrophilic cytoplasm of Pick bodies. The amygdala was abnormal in every case and had severe involvement of all nuclear subdivisions. Behaviorally, the patients exhibited elements of ...

Although the behavioral abnormalities of the Klüver-Bucy syndrome are well known, an investigation of the endocrine parameters had not been undertaken previously. The authors report normal reproductive cyclicity (including preserved feedback mechanisms) and growth hormone and cortisol secretion patterns in female rhesus monkeys with the syndrome. It is concluded that ...

The Hermansky-Pudlak Syndrome, a "tyrosinase positive' form of oculocutaneous albinism, is a triad comprising albinism, a hemorrhagic diathesis and ceroid-lipofuscin storage. A pedigree is presented showing consanguinity with a pattern of pseudodominance. Electroretinography in two isolated Hermansky-Pudlak subjects was distinctly abnormal, showing decreased rod and cone responses (as well as ...

Brainstem auditory evoked potentials (BAEPs) were studied in a "locked-in" syndrome resulting from multiple occlusions of paramedian pontine arteries. Abnormality of BAEPs (first recorded 10 days after infarction) indicated that brainstem damage extended beyond the basis pontis, where, typically, interruption of corticospinal pathways results in the "locked-in" syndrome. Later, partial ...

Four boys of the same family (three first cousins and their uncle) had the same syndrome of multiple malformations. They had hypertelorism, antimongolian slant of the palpebral fissures, low-set ears, and Pierre Robin syndrome. The ossification of the skull vault was defective, with broad sutures and fontanelles. The ribs were ...

The ultrastructure of the ocular pigment abnormality of human Chédiak-Higashi syndrome is described. The presence of giant abnormal melanosomes, probably the end result of the fusion of smaller abnormal organelles, was the most striking pathologic finding. This defect involved both optic cup and neural crest-derived melanocytes; the former were affected ...

The C2 nerve roots and rami were dissected in five cadavers to explore the pathogenesis of Neck-Tongue Syndrome. The most likely cause of the simultaneous occurrence of suboccipital pain and ipsilateral numbness of the tongue is an abnormal subluxation of one lateral atlanto-axial joint with impaction of the C2 ventral ...

Skin fibroblast-like (FL) cells from patients with Werner's syndrome (adult progeria) regularly demonstrate frequent pseudodiploidy involving variable structural rearrangements that are clonal: variegated translocation mosaicism (VTM). Ninety-two percent of 1,538 metaphases from 29 independent strains derived from five patients with Werner's syndrome demonstrated this cytogenetic abnormality. In contrast, only eight ...

Disgust with "fatness" and a consequent preoccupation with body weight, coupled with an inability to reduce it to or sustain it at the desired low level, characterizes the abnormal normal weight control syndrome. Individuals remain sexually active in a biological sense and often also socially. Indeed their sexual behaviour may ...

The data processing of multiple congenital abnormalities is demonstrated in the Hungarian Surveillance of Congenital Anomalies. Specified dysmorphic syndromes and CA-associations are registered on the basis of notification. Unspecified multiple congenital abnormalities are evaluated on the basis of notified abnormalities. First, a distance-diagnosis is being tried concerning some specified dysmorphic ...

Six interrelated abnormalities of Bartter's syndrome are analyzed-juxtaglomerular hyperplasia, angiotensin resistance, altered kallikrein-kinin system, hyperprostaglandinuria, hypokalemia, and chloride-losing nephropathy. Arguments are advanced that any one of these could be the proximate cause and result in all the others. By the same token, each abnormality could be a consequence of any ...

A case of a child with Sanfilippo B syndrome (MPS III B), born of a consanguineous marriage, is reported. Urinary mucopolysaccharide analysis showed an abnormal excretion mainly of heparan sulphate. N-acetyl-a-glucosaminidase activity was absent in the patient but was present in the heterozygous range in parents and siblings. CSF mucopolysaccharides ...

Electroencephalographic investigation of 21 patients with delusional misidentification syndromes (11 with the syndrome of Capgras, 7 with the syndrome of Frégoli, 2 with the syndrome of intermetamorphosis and 1 with the syndrome of subjective doubles) revealed a high abundance and severity of abnormalities. The findings are discussed within the framework ...

We describe 2 patients with Klinefelter's syndrome in whom mediastinal germ cell neoplasms developed. This association also has been noted in the literature in 6 other cases. The pathogenesis of these otherwise rare neoplasms probably is related to the genetic abnormality and the abnormal hormonal status in Klinefelter's syndrome. Patients ...

A family with X-linked recessive congenital stationary night blindness, myopia, and tilted discs has been identified. All affected members have decreased vision, nystagmus, strabismus with decreased binocular function, visual field defects, abnormal fundus appearance with typical fluorescein angiographic findings of tilted disc syndrome, abnormal electroretinograms, and abnormal visual evoked responses ...

The radiographic features of five patients with arteriohepatic dysplasia are presented. These patients had congenital intrahepatic cholestasis with elevated serum bile acids, vertebral body abnormalities of shape and/or segmentation, shortened digits, and congenital heart disease, particularly peripheral pulmonic stenosis. They also had dysmorphic facies, eye abnormalities, hypercholesterolemia, and mild fat ...

Retinal abnormalities associated with hearing loss may be inherited alone or with additional manifestations. Environmental insults, such as rubella embryopathy, may also cause these abnormalities. We studied 13 patients with retinal abnormalities and hearing loss. Five had Usher's syndrome (retinitis pigmentosa and hearing impairment), one had crystalline retinopathy, two had ...

A familial cutis laxa syndrome is reported in a mother and son. In addition, the son had Klippel-Tranaunay-Weber syndrome, which may be related to his underlying disorder. Ultrastructural examination of skin revealed previously recognized abnormalities of elastic tissue. In addition, abnormalities in collagen structure are demonstrated. The underlying defect in ...

The Chediak-Higashi syndrome (CHS) trait is expressed in cultured human skin fibroblasts as an abnormal perinuclear concentration of moderately enlarged lysosomes. The cytoskeleton of CHS fibroblasts appears intact. Microtubules are normal in number and morphology, as assessed by colchicine binding studies, antitubulin immunofluorescence, and electron microscopy. Deformability by shear force ...

Ciliary motility was studied in three patients with Kartagener syndrome who had previously been found to have absent nasal and pulmonary mucociliary transport and missing dynein arms in nasal cilia. A video system was used to record movement of cilia obtained by nasal brushings for analysis of wave form and ...

Serum bile salt measurements and intravenous clearance of glycocholate were performed in a woman with Dubin-Johnson syndrome. Fasting conjugated cholate concentration was raised and prolonged intravenous clearance of sodium glycocholate revealed a secondary rise in conjugated cholate concentration after two hours. The intravenous clearance of bromsulphthalein also showed a secondary ...

A case of Netherton's syndrome is reported herein and twenty-four previous cases reviewed and tabulated with respect to age, sex, family history, intelligence, consanguinity, aminoaciduria, atopy, recurrent infections, and IgG. This syndrome is characterized by the presence of trichorrhexis invaginata, a distinctive hair shaft abnormality, and either ichtyosis linearis circumflexa ...

A patient with Rubinstein-Taybi syndrome complicated by tetraplegia secondary to cervical spondylolisthesis is reported. The abnormalities presenting in this condition are reviewed.

The abnormalities of male sex differentiation are relevant from chromosomal abnormalities, male differentiation with inappropriate karyotype, true hermophroditism and male pseudohermaphroditism (MPH). We define MPH as incomplete masculinization of the external genitalia in subjects with normal 46 XY karyotype. Clinical phenotype of MPH is not characteristic: it will depend on ...

On the basis of clinical data, it had previously been proposed that the Forsius-Eriksson syndrome is identical to Nettleship-Falls X-linked ocular albinism. We performed biopsies of clinically-normal skin in patients with the Forsius-Eriksson syndrome to look for the abnormal melanosomes characteristic of Nettleship-Falls X-linked ocular albinism. There were no abnormalities ...

We describe four new patients with a unique syndrome of persistent urticaria, with leukoclastic angiitis, severe angioedema, occasional life-threatening laryngeal edema, arthritis, arthralgia, neurologic abnormalities and pronounced persistent hypocomplementemia. The complement abnormalities involved markedly reduced levels of the Clq subunit of the first component of complement (Cl) in the presence ...

The nail-patella syndrome has been of interest to dermatologists because the diagnosis of this multisystem complex may be suggested simply by observing the patient's abnormal nails. It is the purpose of this article to call attention to triangular lunulae and other nail abnormalities associated with this syndrome, as well as ...

There is an expanding list of syndromes that combine ichthyosis with neuroectodermal and mesodermal defects. We present the case of a young woman with the following features: lamellar ichthyosis, dwarfism, mental retardation, nail and dental abnormalities, unusual facies, poor sexual maturation, punctate cataracts, and hair shaft abnormalities. There were no ...

A case of Goldenhar's syndrome associated with fifth, seventh, and eighth nerve involvement is described. Tomographic examination of the temporal bones showed evidence of an abnormal internal auditory meatus. Otoneurological examination suggested that involvement of the seventh and eighth nerves was closely related to the abnormality in the internal auditory ...

A child with mediastinal and supraclavicular ganglioneuroma, heterochromia iridis, and Horner's syndrome is described. The authors postulate that the thoracic neoplasm originated as a congenital neuroblastoma with metastasis to the supraclavicular lymph nodes and subsequent benign transformation, and that the ocular abnormalities resulted from sympathetic ganglion injury by the tumor ...

A 15-year-old girl with the Langer-Giedion-syndrome (tricho-rhinophalangeal syndrome, type II) is presented. The features are multiple exostoses, sparse, fine hair and an abnormal face and hands. X-ray examination reveals exostoses and abnormal epiphyses. In this case intelligence is normal; there is severe sensorineural deafness (60--80 dB hearing loss). The genetic ...

Lymphatic abnormalities are not generally recognized as part of the Noonan syndrome. A child with this condition in whom unique and widespread lymphatic abnormalities were demonstrated by lymphography is described. Both T and B lymphocytes were detected in chylous fluid drained from the thorax. In addition, the child was found ...

The Kearns-Sayre syndrome (KSS) is a distinctive type of progressive external ophthalmoplegia, characterized by pigmentary degeneration of the retina, heart block, elevated concentration of cerebrospinal fluid protein, and abnormal muscle mitochondria. Previously described cases have all been sporadic. Consequently, viral infections and autoimmune disorders have been proposed as etiologies. The ...

Twelve closely related members of one family were found to have small or absent patellae. Seven of these patients also had abnormalities of the pelvic girdle and upper femora. There was a resemblance to the nail--patella syndrome in the patellar abnormalities but not in the associated conditions, and it would ...

Alkaline reflux gastritis is presently accepted as being part of the postgastrectomy syndrome complex. Our experience with this entity has revealed a frequent association of alkaline reflux gastritis with functional or organic abnormalities of the gastric remnant and/or newly formed gastrojejunostomy. The role alkaline reflux gastritis plays as a separate ...

Cholesterol synthesis inhibitors administered to rats caused more or less complete forms of the holoprosencephalic syndrome, consisting of severe abnormalities of the brain, sense organs and pituitary. The absence of the pituitary was also observed in fetuses without externally visible cephalic abnormalities. These observations suggest that the isolated absence of ...

The first clinical case of transient traumatic locked-in syndrome is presented. The locked-in state lasted for 3 months. The patient's neurologic deficit and the abnormal auditory evoked responses pointed to a lesion involving the left pons and ventral midbrain. The locked-in syndrome caused by a traumatic damage of the brain ...

Five boys who had Noonan's syndrome and lymphatic abnormalities are reported. The youngest boy had clinical lymphoedema and the other four showed dermal backflow after interdigital injection of Patent Blue indicating impairment of flow along the superficial lymphatics. One boy had severe bilateral chylothorax. The lymphographic findings in four of ...

The present study documents a characteristic tomographic sellar abnormality in five patients with Forbes-Albright syndrome (ammenorrhea-galactorrhea) and surgically proved pituitary microadenomas. This abnormality, noted in patients with normal-sized sellae, consists of asymmetric erosion of the anterior inferior wall of the sella turcica. Utilizing the twin criteria of an elevated serum ...

37 children presenting with West's syndrome were studied by computerized tomography scanning. An abnormality consisting of diffuse cerebral atrophy, predominating in the fronto-temporal region, was demonstrated in 30 cases. The abnormality was sometimes associated with calcification (tuberous sclerosis) or malformation (agenesis of the corpus callosum). The aetiology of the atrophy ...

The karyotypes of 7 douc langurs (Pygathrix nemaeus) and 3 crowned lemurs (Lemur coronatus) were examined. Abnormalities in 23.5% of the karyotypes of 1 male douc langur were associated with a history of fathering stillborns and abortuses (38%). Karyotype analysis of an apparently normal female lemur revealed three differing karyotypes, ...

Xeroderma pigmentosum (XP) is a rare inherited, heterogeneous syndrome with pigment anomalies, sun sensitivity, multiple cutaneous neoplasms and abnormal self protecting systems (SPS). The transmittence is autosomal-recessive. 50 percent of XP patients gets melanoma and 15 percent have neurological abnormalities. Clinical differentiation, determination of the DNA repair rate and cell ...

Computerized axial tomography (CAT) in 38 patients with Lennox-Gastaut syndrome showed normal findings in 20 patients and abnormalities in 18; diffuse cerebral atrophy (8) was the most common abnormality. These findings are not basically different from those recently reported by Gastaut and Gastaut (1976). Emphasis is laid upon age and ...

A new name, "puberal starvation-amenorrhea", is proposed as more descriptive of the syndrome and less committal concerning its etiology. Though the etiology remains uncertain, a growing body of evidence--deranged hormonal secretory patterns, deficient thermal and water regulation, and other physiologic abnormalities--indicates that a specific hypothalamic dysfunction is responsible for this ...

Electron microscopical study of a biopsied specimen of myocardium from a patient with the Kugelberg-Welander syndrome revealed myocardial degeneration, including preferential loss of myosin filaments and abnormalities in the Z bands. Leptomeric fibrils were also observed in the cardiac muscle cell; there does not appear to be a previous report ...

A patient with rapidly fatal hypereosinophilic syndrome and a bone marrow chromosomal abnormality, 49,XYY,t(3:5),+8,+mar, is described. Scanning and transmission electron microscopy of eosinophils failed to reveal any significant abnormalities. Previous cytogenetic data on patients with hypereosinophilic syndrome have been deficient in that few studies have been performed with banding technics. ...