There is controversy whether bone marrow edema syndrome represents a distinct transient disease or reflects an early reversible phase of spontaneous osteonecrosis of the hip. Hypofibrinolysis on the basis of elevated plasma levels of plasminogen activator inhibitor or lipoprotein(a) or both has been reported to favor the development of bone ...

Most cases with Kabuki syndrome (KS) were reported sporadically. Recently, a few familial cases of KS were reported. This report provides further evidence that the KS is inherited as a dominant trait with variable expressivity. The proposita is an 18-month-old girl with facial findings characteristic of Kabuki syndrome, prominent fingertip-pads, ...

We describe three unrelated women with hypogonadotropic hypogonadism and anosmia; that is, Kallmann syndrome. Absence of olfactory bulbs and tracts and different degrees of asymmetric dysplasia of olfactory sulci were demonstrated by MRI. Both the father of Case 1 and the maternal aunt of Case 3 had anosmia, thus autosomal ...

We report on a Thai man who had triphalangeal thumb-polysyndactyly syndrome (TPTPS, MIM *190605) and his daughter who had tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS, MIM *188770). The father had polysyndactyly of triphalangeal thumbs, syndactyly of fingers, duplicated distal phalanx of the left great toe, brachymesophalangy of toes, and the absence ...

The autosomal recessive multicentric osteolytic disorders of childhood-Torg, Winchester, and François syndromes-predominantly affect the carpal, tarsal, and interphalangeal joints, and their progressive bone loss and crippling arthritic deformities mimic severe juvenile rheumatoid arthritis. In a consanguineous Saudi Arabian family two affected sibs with facial anomalies and short stature displayed a ...

OBJECTIVE: The deficit syndrome is a subtype of schizophrenia characterized by primary and enduring negative features of psychopathology. It appears to reflect a distinct subtype within the syndrome of schizophrenia. Little is known about the familial or genetic aspects of the deficit syndrome. The purpose of this study was to ...

We report a family of three affected individuals with the facial features of Char syndrome. The family also demonstrates symphalangism of the distal interphalangeal joints of the fifth fingers, extending the digital phenotype seen in this condition. We review the features of previously reported patients and emphasise the variability in ...

A subset of inattentive children have an underlying problem in sustaining wakefulness ("vigilance"). This disorder of vigilance, termed Weinberg's syndrome, is characterized by difficulty in maintaining wakefulness and alertness as evidenced by (among other symptoms) motor restlessness (fidgeting and moving about, yawning and stretching, talkativeness) and complaints of tiredness. During ...

Poland's syndrome consists of unilateral congenital absence of the pectoralis major muscle with a variable degree of ipsilateral upper limb deformity. The aetiology of Poland's syndrome is unknown, although an inherited tendency to develop a compromised embryonic vascular supply in the affected areas has been suggested. The majority of reported ...

We report a new family with oculodigitoesophagoduodenal syndrome (ODED syndrome), which associates microcephaly, abnormalities of the hands and feet, shortened palpebral fissures, tracheoesophageal fistula and duodenal atresia. In addition, previously unreported vertebral anomalies are described. This report further delineates the clinical and radiographic spectrum of this syndrome, providing useful information ...

We have studied 23 children from 13 families with a clinical diagnosis of Aicardi-Goutières syndrome. Affected individuals had developed an early-onset progressive encephalopathy that was characterized by a normal head circumference at birth, basal ganglia calcification, negative viral studies, and abnormalities of cerebrospinal fluid comprising either raised white cell counts ...

Brown-Vialetto-Van Laere syndrome or pontobulbar palsy with deafness is a rare disorder characterized by bilateral nerve deafness, a variety of cranial nerve disorders usually involving the motor components of the 7th and 9th to 12th cranial nerves, and less commonly an involvement of spinal motor nerves and upper motor neurons. ...

We report two phenotypically and genetically different diseases in the same family. One patient presented with Turner phenotype as a result of chromosomal mosaicism 45,X/46,X, inv(X)(q21;q24) (30%/70%). Her father's sister showed 46,XY female gonadal dysgenesis (Swyer's syndrome) as a result of a point mutation in the SRY gene on her ...

DESIGN: We examined 3 generations in a family for congenital conductive hearing impairment, dysmorphic small auricles, and lip pits. SETTING: Department of Otorhinolaryngology, University Hospital Nijmegen, Nijmegen, the Netherlands. RESULTS: Seven members of the family had bilateral dysmorphic auricles. Three subjects had either a pit or dimple in the lip. ...

OBJECTIVE: To identify the nature of the hearing impairment in the members of a Chinese family with Fechtner's syndrome. STUDY DESIGN: Retrospective case review. SETTING: Tertiary referral center. PATIENTS: A Chinese family with a variant of Alport's syndrome: high-tone sensorineural hearing loss, proteinuria, macrothrombocytopenia, and ocular disease. INTERVENTIONS: The diagnosis ...

Congenital long QT syndrome may be transmitted as either an autosomal dominant or recessive trait. Two families with the autosomal recessive Jervell and Lange-Nielsen syndrome (JLNS), and one family with the autosomal dominant Romano-Ward syndrome (RWS) were evaluated for mutations in KCNQ1. Two different novel frameshift mutations were discovered in ...

BACKGROUND: Stickler syndrome is a progressive autosomal-dominant connective tissue disorder with numerous ocular and systemic manifestations. Ocular abnormalities include: retinal detachment, glaucoma, premature cataracts, high myopia, optically empty vitreous cavities, and retinal pigmentary changes. Systemic signs include premature osteoarthritis and hearing loss, as well as numerous skeletal and facial malformations, ...

Duane's syndrome is an unusual congenital form of strabismus where there is paradoxical anomalous lateral rectus innervation of the affected eye due to misdirection of axons destined for the medial rectus. Three types of Duane's syndrome are recognized. Most cases of Duane's syndrome are sporadic but up to 10% are ...

Autosomal recessive Robinow syndrome is a form of mesomelic dwarfism with multiple rib and vertebral anomalies. Using autozygosity mapping we have identified a genetic locus (RBNW1) for this syndrome at chromosome 9q22 in seven consanguineous families from Oman. Our results indicate that the gene lies within a 4 cM region ...

Four types of carbohydrate-deficient glycoprotein syndrome have been described, and the cause of two of them has been found. The symptoms and signs of these syndromes are described, with variations that occur at different ages. The commonest is type Ia with an autosomal recessive form of inheritance, and the gene ...

Rigid spine syndrome is a term first proposed by Dubowitz to describe a subset of patients affected by myopathy with early spinal contractures as a prominent feature. While spinal rigidity is a nonspecific feature, found in Emery-Dreifuss muscular dystrophy and in some congenital myopathies, it is also a prominent feature ...

We describe a family with the unusual association of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome. The father has characteristic mucocutaneous features that are palmoplantar keratoses, multiple facial papules, oral papillomatoses, lipomas, and vitiligo with involvement of the thyroid and digestive tract. The son presents with pigmented macules of the penis, macrocephaly, ...

In 1993, we described an autosomal-dominant syndrome in a German family characterized by ectrodactyly/syndactyly, dysplasia of nails, lacrimal duct atresia, hypodontia, hypoplastic breasts and nipples, intensive freckling (ADULT syndrome, acro-dermato-ungual-lacrimal-tooth syndrome, MIM 103285). In 1996 a large Dutch family with an autosomal-dominant syndrome ("limb mammary syndrome", LMS, MIM *603543) characterized ...

Familial occurrence of idiopathic dilatation of the right atrium is extremely rare. This is the first description of a family in which 2 siblings had a syndrome of idiopathic dilatation of the right atrium associated with complete atrio-ventricular block. The family workup did not show other family members to be ...

Rett syndrome is a neurological disorder that is seen almost exclusively in females. Although generally considered to have a genetic basis, the underlying mechanism remains obscure. One favoured hypothesis is that the syndrome is an X-linked dominant disorder, lethal or non-expressed in males. Genealogical research has also suggested that the ...

Dorfman-Chanarin syndrome is a rare, autosomal recessive inherited lipid storage disease with congenital ichthyotic erythroderma due to an acylglycerol recycling defect. Demonstration of lipid vacuoles in neutrophils from peripheral blood smears (Jordans' anomaly) in patients with ichthyotic erythroderma leads to the diagnosis. In spite of frequent liver, muscle, ear, eye ...

This paper presents the second case in the literature of large vestibular aqueduct syndrome without associated cochlear anomalies in 2 members of the same family. The syndrome is frequently associated with sensorineural hearing loss presenting in childhood. The onset is commonly sudden, following an event causing increased intracranial pressure. On ...

We report a man and his two daughters (one stillborn) with an apparently unique constellation of anomalies including fifth finger/toe terminal phalanx and nail hypoplasia. The craniofacial manifestations include large boxy head, round face, hypertelorism with downslanting palpebral fissures and wide mouth. Other manifestations include brachydactyly, fifth finger clinodactyly and ...

The author summarizes hitherto assembled experience with the clinical and genetic characteristics of Poland's and Möbius syndrome. Five selected case-records with this disease and the sequence of the Poland-Möbius syndrome are presented. Another case-record is devoted to an allied syndrome, hypoglossia-hypodactyly, found in a spontaneously aborted fetus. For establishment of ...

The application of molecular biology to haematology has provided the opportunity to revisit previous diagnoses, many of which can now be redefined. This report is on a local family previously diagnosed and published as having X-linked thrombocytopenia in 1974, and shows how the application of molecular screening has confirmed the ...

Ultrastructural studies of granulocytes were performed on two unrelated patients with hereditary thrombocytopenia, giant platelets, and inclusion bodies in granulocytes. Each patient had been diagnosed with May-Hegglin anomaly. In both cases, inclusion bodies in granulocytes consisted of clusters of ribosomes and small segments of rough endoplasmic reticulum. Additional clinical features ...

Alport syndrome is an inherited disorder of type IV collagen, a major constituent of basement membranes. Eighty-five percent of cases are transmitted through X-linked dominant inheritance, although autosomal dominant and autosomal recessive inheritance has also been reported. Clinical manifestations of Alport syndrome include progressive glomerulopathy, sensorineural deafness, anterior lenticonus, posterior ...

BACKGROUND: Weill-Marchesani syndrome is a rare systemic connective tissue disorder consisting of brachymorphy, brachydactyly, ectopia lentis, spherophakia and glaucoma. METHODS: We report 6 patients with Weill-Marchesani syndrome (with or without ocular involvement) in three generations, identified by screening 26 members of two families. This is the largest family in the ...

The association between cardiac and limb defects, particularly those affecting the hand, has been well documented by the delineation of several heart-hand syndromes. Based on observations with a three-generation family with seven affected individuals, we describe a novel heart-hand syndrome comprising patent ductus arteriosus, bicuspid aortic valve, 5th metacarpal hypoplasia, ...

Patients with Gitelman syndrome are usually diagnosed by chance or present with muscular weakness, constipation, or tetanies due to hypokalemia and hypomagnesemia. We present a short statured boy with a clear history of familial short stature, normal growth and a final height prognosis within the target height range. However, routine ...

Perlman syndrome was first described in 1973 and comprises nephromegaly with renal dysplasia and Wilms tumor, macrosomia, cryptorchidism, and multiple facial anomalies. Polyhydramnios and hypoglycaemia are often found. Twelve children have been described from six different families. Five came from one family whose Yemenite Jewish parents were second cousins. Autosomal ...

Hydrolethalus syndrome is a recessively inherited lethal malformation syndrome characterized by hydrocephaly with absent midline structures of the brain, micrognathia, polydactyly, and several other abnormalities, mostly in the midline structures. Hydrolethalus syndrome was described in 1981 in Finland, where the incidence is 1:20,000. Only a few cases have been reported ...

Idiopathic infantile hypercalcemia (IIH) is a rare cause of hypercalcemia in the 1st year of life and was initially considered part of a spectrum encompassing vitamin D intoxication, Williams syndrome, and idiopathic hypercalcemia. Identification of the gene for Williams syndrome now allows a clear separation of IIH from Williams syndrome. ...

Rigid spine syndrome is a neuromuscular disorder characterised by early rigidity of the spine due to axial muscle contractures, generally associated with muscle weakness, limb-joint contractures, and often respiratory failure. This phenotype may be associated with several muscular diseases. In cases of merosin-positive congenital muscular dystrophies (CMD) with rigid spine ...

We describe a new case of Say syndrome. This syndrome is an autosomal dominant condition characterized by cleft palate, short stature of prenatal onset, large protruding ears and microcephaly, delayed bone age, and renal anomalies. The first report was in 1975 by Say et al. in three generations of a ...

Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females) affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%); craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the ...

OBJECTIVE: The primary purpose of this study was to investigate the periodontal pathologic cause of Papillon-Lefèvre syndrome by comparing, with respect to neutrophil function, probands with Papillon-Lefèvre syndrome from 4 families in Egypt, unaffected siblings of the probands, and age-matched and gender-matched control subjects. STUDY DESIGN: Family histories and clinical ...

Möbius syndrome (MIM 157900) consists of a congenital paresis or paralysis of the VIIth (facial) cranial nerve, frequently accompanied by dysfunction of other cranial nerves. The abducens nerve is typically affected, and often, also, the hypoglossal nerve. In addition, orofacial and limb malformations, defects of the musculoskeletal system, and mental ...

Fragile X syndrome is the most common inherited condition causing mental retardation in males. Females with the full mutation expansion can have milder signs of the disorder. Families with members who have been diagnosed with fragile X syndrome face concerns about the health of their newborn infant, decisions regarding family ...

Cantú syndrome (hypertrichosis, osteochondrodysplasia, cardiomegaly) is a rare condition, previously reported in 13 patients. We report on two additional patients with this disorder. One of the patients had pulmonary hypertension of unknown cause which was responsive to steroid therapy. She also had unusual, deep plantar creases, not reported previously in ...

A 24-year-old man with Down syndrome presented with prominent ichthyosiform skin on his extremities and psoriatic plaques on his chest, back and scalp. The late onset of his ichthyosis without family history suggested that it was not a heritable form but was associated Down syndrome. Such an association with ichthyosis ...

Familial burning feet syndrome inherited as an autosomal dominant trait has been described in only one family. Due to an associated sensory neuropathy the autosomal dominant burning feet syndrome was suggested to represent a variant form of hereditary sensory and autonomic neuropathy type I (HSAN I). Clinical, histopathological, and molecular ...

Short rib-polydactyly syndromes (SRPS) are a heterogeneous group of recessively inherited lethal skeletal dysplasias. Four types have been recognised. However, overlap in the clinical and radiological features of the four types has led to difficulties in distinguishing between them. The congenital infection-like syndrome is an autosomal recessive syndrome characterised by ...

A case is presented of a 39-year-old woman with a history of simultaneous Familial hemiplegic migraine (FHM) and hemicrania continua (HC). The family history of the patient revealed different types of migraine and cyclic syndromes in childhood in four generations. The possible links between FHM and HC are discussed. The ...

The tooth-and-nail syndrome (Witkop's syndrome) is a rare autosomal dominant ectodermal dysplasia manifest by defects of the nail plates of the fingers and toes and hypodontia with normal hair and sweat gland function. We report a thirteen year-old girl who presented with marked longitudinal ridging of the nail plates of ...