This is the first case in the literature describing naevi spili, café-au-lait spots and melanocytic naevi aggregated along-side Blaschko's lines. The pattern of melanocytic lesions in our patient is different from the congenital pigmentary syndromes and the segmental distribution of melanocytic naevi, the quadrant distribution of dysplastic naevi or the ...

Congenital sialidosis is a rare disease resulting from the absence of neurominidase and presenting with hydrops fetalis, hepatosplenomegaly, dysmorphic features, vacuolated lymphocytes and extensive vacuolation of the connective tissue. Elevated levels of sialooligosaccharides in the urine is characteristic. We describe a newborn baby with congenital sialidosis and discuss the difficulties ...

Congenital muscular dystrophy consists of Fukuyama congenital muscular dystrophy, Walker-Warburg syndrome, muscle-eye-brain disease, and occidental congenital muscular dystrophy, which is further divided into laminin-alpha2-positive and laminin-alpha2-negative subgroups. These forms of congenital muscular dystrophy are frequently associated with abnormal white-matter changes, whereas the Fukuyama form, Walker-Warburg syndrome, and muscle-eye-brain disease are ...

The clinicopathological findings on a 17-year-old female with the Möbius/Moebius syndrome are reported. The signs and symptoms of this neuromuscular condition include congenital bilateral or unilateral palsies of the facial and abducens cranial nerves and a broad scope of multisystem abnormalities. A case of unilateral deficiencies of cranial nerves VI ...

Takayasu arteritis, also known as the aortitis syndrome, is a panarteritis that affects the arcus aorta and its major branches, seen usually in young women. As Takayasu arteritis has a progressive nature, surgery is usually indicated only in complications of the arteritis. In this report we present two surgically treated ...

BACKGROUND: The congenital fibrosis syndrome is a hereditary form of external ophthalmoplegia that is considered to be a primary myopathy. PURPOSE: To document the coexistence of two distinct forms of ocular motor synkinesis in a subgroup of patients with congenital fibrosis syndrome. METHODS: Clinical and intraoperative examination results and extraocular ...

Follicular atrophoderma is a rare anomaly observed mainly in the X-dominant form of chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome) and in the X-linked dominant Bazex syndrome. We report on five Emirati sibs (three girls and two boys), 4-18 years old, with normal stature, diffuse congenital ichthyosis, patchy follicular atrophoderma, generalized and diffuse ...

Myelodysplastic syndromes (MDS) are hematologic disorders characterised by peripheral cytopenias and the hystologic features of hematologic dysplasia. Their association with autoimmune manifestations have been suggested by several authors: recently, the appearance of Behçet's disease during MDS has been reported. We describe the occurrence of MDS in a patient affected by ...

When Caroli's disease, defined as a congenital dilation and ectasia of segmental intrahepatic bile ducts in the absence of other histological abnormalities, is associated with periportal fibrosis, it is termed Caroli's syndrome. We describe the case of a 35-yr-old woman with Caroli's syndrome without clinical manifestation of portal hypertension despite ...

Foix-Chavany-Marie syndrome (FCMS) is characterized by facio-linguo-masticatory diplegia in the absence of limb weakness. The most common cause is a cortical lesion resulting from a stroke but a congenital form has been reported. We present the case of a 53-year-old man who was admitted to hospital with worsening dysphagia which ...

Dysmorphic features in three sibs with congenital dyserythropoietic anaemia type 1 are described. These findings include growth retardation/short stature, congenital ptosis, abnormal tarsal bones, metatarsal duplication/hypoplasia, nail/phalangeal hypoplasia of fingers and toes, Madelung deformity, syndactyly of toes, and hallux valgus. The patients also showed a very low mitotic index of ...

Congenital deficiency of the fibula is sometimes accompanied by femoral hypoplasia, genu valgum, patellar a/hypoplasia or dislocation, tibial bowing, foot deformity, and toe deficiency in the affected limb. 'Iliac horns' are bony projections extending posterolaterally from the ilium and considered to be pathognomonic of nail-patella syndrome. We report a 5-year-old ...

The clinical profile of 33 children (19 boys, 14 girls) with multiple congenital contractures has been studied. The majority (54%) belong to arthrogryposis multiplex congenita with a static clinical course. Children were classified into three groups: group I (limb involvement only; n = 21) having arthrogryposis multiplex congenita (n = ...

We report a case of congenital onychodysplasia of the index fingers (Iso-Kikuchi syndrome) in a 2-year-old boy who had nail deformities on both index fingers and the left second toe. He had a micronychia of the left index fingernail, malalignment and abnormal lunula of the right index fingernail and micronychia ...

PURPOSE: Congenital ptosis may be accompanied by weakness of the ipsilateral superior rectus muscle. We report the finding of a hypertropia of the ipsilateral eye in patients with isolated unilateral congenital ptosis that became manifest only in upgaze. METHODS: Seventy consecutive patients with congenital ptosis were recalled and 58 reexamined. ...

A 16 days old male baby had congenital cutis laxa without family history. He had redundant and lax skin all over the body with slanting of the palpebral fissures medially and broad nasal root.

The occurrence and pattern of cervical spinal fusions have been assessed in 59 cases of Apert syndrome (acrocephalosyndactyly type 1). Radiological evidence of vertebral fusion either in progress or completed was observed in 37 (63%) of the cases. Fusion was limited to a single vertebral level in 18 cases and ...

Morphological and developmental changes of the ventricular system are analyzed in three major experimental models of congenital hydrocephalus in the rat: 6-aminonicotinamide (6-AN)-induced and LEW/Jms and HTX mutant hydrocephalus. The clinically comparable forms of hydrocephalus and problems occurring during each period of intrauterine hydrocephalus are then discussed. Comparative morphological study ...

Iatrogenic dysmotility syndromes, particularly achalasia-like conditions, occasionally complicate esophageal and paraesophageal surgery. We describe a patient who developed a very unusual (and as far as we know unreported) syndrome characterized by severe dysphagia, esophageal dysmotility (segmental simultaneous contractions of the distal esophagus), and very large saccular outpouching (diverticulum) involving the ...

We report a typical case of congenital varicella syndrome following a maternal varicella infection during the 10th week of pregnancy. The presenting symptoms in the small gestational age baby were: cicatricial skin lesion, Horner's syndrome,dysphagia with resulting aspiration pneumonia and delayed developmental milestones. Serologic studies revealed persistence of varicella zoster ...

A case of prenatally diagnosed autosomal dominant congenital hypoplastic anaemia (Blackfan-Diamond syndrome or Aase congenital anaemia) causing hydrops fetalis is presented. Recommendations for the prenatal management of Blackfan-Diamond syndrome (BDS) include prepregnancy counselling for parents with BDS, detailed and serial fetal ultrasonography and echocardiography, cordocentesis if there are signs of ...

Congenital macroglossia is associated with a variety of syndromes, most commonly Down syndrome and Beckwith-Widemann syndrome. Clinically, macroglossia may result in respiratory compromise, dysphagia, and poor cosmesis. A variety of treatments have been proposed, with surgical resection being the most common. We review management and describe a new surgical technique, ...

A flow-cytometric study was performed in monogenic disorders of keratinization, to assess DNA distribution as well as the expression of keratins and involucrin. In addition, the changes in expression of these markers under influence of calcipotriol treatment were investigated. Proliferation, measured by the percentage of epidermal cells in SG2M-phase of ...

An 8-year-old boy had a congenital, solitary verrucous lesion on his ear that histologically showed numerous maloriented infundibulocystic structures from which radiated immature sebaceous lobules as well as hair germs with rudimentary papillae. The surrounding stroma was fibrillary, containing large quantities of mucin. We conclude that perifollicular mucinosis, considered to ...

The occurrence of selective IgA deficiency and hypothyroidism with congenital lymphoedema has never previously been documented, although the association of hypogammaglobulinaemia with congenital lymphoedema has previously been reported and can result in recurrent respiratory infections. We report a 34 year old woman with congenital lymphoedema who was found to have ...

The saddle nose resembles a saddle, i.e., with a concave, often flattened dorsum and an apparent cephalic rotation of the nasal tip. The concavity may be present in the osseous or cartilaginous dorsum, or both. The saddle nose deformity can be divided into congenital, postinfection, postsurgical, and traumatic types. Congenital ...

We describe a mother and her three daughters who all have bilateral congenital dislocation of the hip. The mother has had no other medical problems and is on the 90th centile for height. Her three daughters resemble each other strongly with facial characteristics which include hypertelorism, epicanthic folds, puffiness around ...

The authors report on two infants who had large congenital fibrosarcomas that initially were believed to be hemangiomas. Although hemangioma and congenital fibrosarcoma can have a similar presentation, their treatment is dissimilar. The authors review the anatomic findings, hematologic differences, and radiological clues that can help to differentiate congenital fibrosarcoma ...

OBJECTIVE: Ureterocele eversion refers to the sudden appearance of a bladder diverticulum at the site of ureterocele compression during voiding cystourethrography (VCUG). The radiologic appearance closely resembles a congenital bladder (paraureteral) diverticulum. Distinguishing ureterocele eversion with vesicoureteral reflux in duplex kidneys from congenital bladder diverticula with reflux is important for ...

An outbreak of zearalenone mycotoxicosis occurred between early March and mid-April involving 62 suckling piglets of both sexes. The clinical picture was characterized by edematous swelling and reddening of the vulva, sometimes associated with reddening and/or necrosis of the tail. Six female piglets had congenital lesions of the external genitalia ...

We describe a 21-year-old woman with congenital unilateral conductive hearing loss and an atypical form of the Mayer-Rokitansky-Küster-Hauser syndrome. To our knowledge, this is the first reported case of this syndrome in which surgery for congenital stapedial ankylosis was successful. Besides aplasia of the vagina and uterus, the patient also ...

The merosin M-chain (or laminin-alpha 2) is one of three subunits of laminin-2 which is highly expressed in striated muscle and peripheral nerve. Complete lack of laminin-alpha 2 expression in skeletal muscle is the hallmark of one form of congenital muscular dystrophy which is characterized by dysmyelination of the central ...

A newborn male with multifocal congenital hemangiopericytomas complicated by Kasabach-Merritt syndrome was treated by excision of a large hemangiopericytoma in the right mandibular area. After excision of this lesion, the associated consumptive coagulopathy abated. Spontaneous regression of other subcutaneous tumours over the thighs and left flank was noted by age ...

Follicular atrophoderma has always been associated with other congenital malformations including, Conradi-Hünermann syndrome, Bazex's syndrome and keratosis palmaris et plantaris dissipata. Congenital pseudarthrosis of the tibia has usually been associated with neurofibromatosis. We report a case of follicular atrophoderma in association with congenital pseudarthrosis of the tibia: a previously unreported ...

We report on a 12 year old mentally retarded boy who presented at birth with bilateral knee dislocations, dislocation of the right hip, and general joint laxity. Cytogenetic studies showed a 49,XXXXY karyotype. Hyperlaxity of joints is known to occur in 49,XXXXY patients, but congenital knee dislocation has not been ...

PURPOSE: To characterize the radiographic appearances of congenital urethroperineal fistula and to distinguish it from urethral duplication of the hypospadiac type. MATERIALS AND METHODS: The authors examined four patients with congenital urethroperineal fistula in whom radiographic examinations were performed to define the pathologic anatomy. RESULTS: Congenital urethroperineal fistula mimics the ...

Congenital subacromial stenosis is a previously undescribed entity that causes narrowing of the height of the subacromial space without proximal migration of the humerus. This study comprised 25 shoulders with congenital subacromial stenosis. All patients had either an impingement syndrome or rotator cuff tear. The average acromiohumeral interval was 4.7 ...

Generalized lipodystrophy is a rare condition which can be divided into congenital and acquired types, based on the age at presentation and pattern of inheritance. The congenital type of generalized lipodystrophy or Lawrence-Seip syndrome presents in first two years of life and is inherited in an autosomal recessive pattern. The ...

Infantile myofibromatosis, congenital fibrosarcoma and congenital/infantile haemangiopericytoma are generally considered distinct entities. Overlapping microscopic features between infantile myofibromatosis and congenital fibrosarcoma, and between infantile myofibromatosis and congenital/infantile haemangiopericytoma, however, have been noted, but not formally reported. This report concerns six neonatal tumours, each exhibiting more than one of the above ...

In the most severe form of congenital adrenal hyperplasia in females, the vagina is located above the level of the external urethral sphincter. Sixteen of these patients had reconstruction with a pull-through technique described previously. Nine are now adults; six have coitus and three do not. Five are young and ...

Joubert syndrome is an autosomal recessive inherited condition characterized by agenesis or hypoplasia of the cerebellar vermis, retinal dystrophy, chorioretinal colobomata, oculomotor abnormalities, episodic hyperpnea, ataxia, and mental retardation. Congenital hepatic fibrosis has not previously been described in Joubert syndrome. We report two unrelated children with Joubert syndrome and hepatosplenomegaly. ...

One hundred and eight neonates and infants who showed the clinical triad of a head turned to one side, adduction contracture of the hip joint on the occipital side of the turned head, and truncal curvature, which we named TAC syndrome, were studied. These cases included seven with congenital and ...

Seventy-one cases of congenital constriction band syndrome (CCBS) were reviewed. The year of birth, sex, ethnic background, gestational history, family history, and concurrent diagnoses were obtained. The anatomic patterns of involvement, degree of impairment, and number and type of surgical interventions were recorded. The incidence of CCBS appears to be ...

Forty-one eyelids of 21 patients with congenital entropion or epiblepharon underwent transcutaneous reconstruction of the eyelid crease and retractor (capsulopalpebral fascia). All of the patients demonstrated lack of cutaneous-capsulopalpebral fascia attachment. In contrast with the patients with epiblepharon, those with congenital entropion also had partial or complete absence of tarsal-capsulopalpebral ...

Fifty patients born with congenital rubella in 1939-1945 were reviewed in 1967. In 1991 this cohort was again studied and their ophthalmic features are presented here. The presence of two new cataracts and one case of possible choroidal neovascularisation are again noted; apart from these three eyes, the group showed ...

Walker-Warburg syndrome is a lethal autosomal recessive disorder characterized by anomalies of the central nervous system and the eye. Recently, elevation of muscle enzymes and congenital muscular dystrophy have been found to contribute to the diagnosis of this syndrome. The authors studied two pairs of siblings with Walker-Warburg syndrome, offspring ...

We present a report of a stillborn female of mixed ancestry with congenitally short pancreas, polysplenia, congenital heart defect, normal bronchial branch pattern, and interruption of the inferior vena cava to add to the growing numbers (15) of this malformation complex in the literature. Additional manifestations were congenital hydrocephalus and ...

We report on 7 perinatal autopsy cases of primary congenital pulmonary lymphangiectasis (CPL) with bilateral chylothorax. This study demonstrates that primary CPL is often complicated by chylous pleural effusions with ensuing pulmonary hypoplasia. Conversely, CPL appears to be a constant pathological finding in spontaneous congenital chylothorax. These observations indicate a ...

The child of a woman immunised against rubella presented at 5 months with developmental delay and recurrent infection; she was shown to have congenital rubella. At 15 months she developed acute myelomonocytic leukaemia (AMML). Rubella is difficult to diagnose after immunisation. AMML has not been previously described in association with ...

The surgical findings in 144 successive ears operated on for congenital conductive hearing loss were analyzed, and the results were evaluated in terms of hearing gain. All the patients underwent middle ear surgery at the University Hospital Nijmegen between 1964 and 1990. A classification system was developed to analyze the ...