Neurocutaneous melanosis is a rare congenital syndrome characterized by large or multiple congenital melanocytic nevi and benign or malignant pigment cell tumors of the leptomeninges. The prognosis is extremely poor for symptomatic patients, even in the absence of malignant melanoma. We present serial MR imaging findings in the brain and ...

Isteoporosis-pseudoglioma syndrome (OPPG) is a rare heritable entity that features severe osteoporosis and many variable ophthalmic findings leading to congenital or juvenile blindness. These include microphthalmos, cataracts, bilateral pseudogliomatous retinal detachments, and phthisis bulbi. OPPG is usually not suspected until fractures occur, frequently after seemingly minor trauma. We report the ...

Congenital generalized hypertrichosis terminalis has been described in association with other features as gingival hyperplasia, osteochondrodysplasia, and a dysmorphic face. Bondeson and Miles [1993: Am J Med Genet 47:198-212] described a woman with universal congenital hypertrichosis terminalis associated with gingival hyperplasia; the face of this patient was coarse and different ...

Ancient Hebrew literature as well as the New Testament differentiate between castrated eunuchs and congenital eunuchs. Congenital eunuchism is very rare today, and assuming that this was also the case in classical times, we investigated possible reasons why congenital eunuchs feature prominently. We discuss the probability that the concept 'congenital ...

We describe a case of unilateral upper eyelid horizontal tarsal kink with congenital corneal ulceration. The surgical repair, by means of a simple resection of orbicularis and skin, is presented as a simple technique to correct the congenital anomaly of tarsal kink. Congenital tarsal kink should be included in the ...

A newborn presented with congenital severe tarsal kink of the upper eyelids not caused by levator aponeurosis disinsertion. A bilateral anterior lamellar repositioning procedure was performed to correct the tarsal kink. Levator aponeurosis disinsertion was not observed as an intraoperative finding. The tarsal kink disappeared, and eyelid positions remained stable ...

A case of congenital bronchobiliary fistula is reported in conjunction with another congenital anomaly, right-sided congenital diaphragmatic hernia. The liver was herniated through the diaphragmatic defect into the right chest where a fistula tract was identified from the surface of the liver to the right mainstem bronchus. The patient was ...

Beals-Hecht syndrome, also known as congenital contractural arachnodactyly, is caused by a defect in fibrillin as in Marfan syndrome. This syndrome is characterized by a multitude of clinical findings including arachnodactyly, narrow body habitus, scoliosis, congenital contractures, and external ear deformities. Restrictive lung disease may be associated with the severe ...

Netherton syndrome is a rare genodermatosis comprised of anichthyosiform dermatitis, hair shaft defects, and atopic features. Other problems associated with Netherton syndrome are delayed growth and development, immune abnormalities, recurrent infections, and intermittent aminoaciduria. We describe an 18-month-old girl with Netherton syndrome who had idiopathic congenital hemihypertrophy on her right ...

A case of a woman with congenital dyserythropoietic anemia type II (CDA-II), Gilbert's syndrome (GS) and trophic malleolar ulceration is described. The association of CDA-II and GS caused early gallstone formation that led the patient to undergo cholecystectomy at the age of 15. GS is typified by increased production of ...

We report a 7-year-old boy with congenital bilateral perisylvian syndrome and congenital constriction band syndrome. The former is a congenital neurologic syndrome characterized by pseudobulbar palsy, mental retardation, epilepsy, and bilateral perisylvian polymicrogyria The latter is a malformative disorder with digital ring constrictions and amputations, probably caused by early amnion ...

The congenital fibrosis syndromes (CFS) are rare inherited strabismus syndromes that present as congenital, nonprogressive ophthalmoplegias with active and passive restriction of globe movement, and include classic and atypical forms of congenital fibrosis of the extraocular muscles (CFEOM) and Duane syndrome (DS). Although historically believed to result from primary extraocular ...

The congenital fibrosis syndromes (CFS), including congenital fibrosis of the extraocular muscles (CFEOM) and Duane syndrome (DS), are rare congenital strabismus syndromes that present with nonprogressive restrictive ophthalmoplegia with or without ptosis. Although historically believed to result from primary extraocular muscle (EOM) fibrosis, our laboratory's work is based on the ...

Idiopathic congenital talipes equinovarus has a reported prevalence of between 0.64 and 2.5 per thousand live births in the Scottish population. A retrospective study of neonates (n=162), who presented with idiopathic congenital talipes equinovarus in Scotland over a 3 year period (1994-1996) revealed a seasonal increased incidence of the condition ...

Congenital generalized terminal hypertrichosis is a rare disease, especially when associated with gingival hyperplasia. Congenital hypertrichosis can be a clinical feature of several syndromes, so these patients must be studied by a multidisciplinary team that should include a dermatologist, geneticist, psychologist, odontologist, and an endocrinologist. We report a 7-year-old girl ...

We describe a 19-year-old female, known to have congenital hemihypertrophy, who presented with bilateral benign pheochromocytoma. This is the second time that this combination has been reported in the literature. We speculate that the combination of congenital hemihypertrophy and pheochromocytoma is not coincidental and could be part of the clinical ...

The association of congenital corneal dystrophy with teenage onset perceptive hearing loss (Harboyan syndrome) has been reported in two sibships, one with consanguineous parents, which were consistent with autosomal recessive transmission. We have observed a Moroccan sibship where four girls and one boy were affected with this rare syndrome. The ...

We present a child with Fanconi anaemia and congenital hypopituitarism, who developed intracerebral calcifications, progressive spasticity and retinopathy. The chromosome fragility with mitomycin C was increased in both the patient and his sibling, confirming a diagnosis of Fanconi anaemia. Aplastic anaemia in association with intracerebral calcifications has been described in ...

The complete developmental expression pattern of the cyclin dependent kinase inhibitor (CDKI) p57(kip2) has not been reported, here we report a detailed study of the localization of p57(kip2) protein during mouse organogenesis. We show that p57(kip2) is coincident with key stages of differentiation of several organs, some but not all ...

The prognosis for congenital esotropia remains guarded. Monofixation syndrome currently is the best widely reported result following surgery. The reoperation rate in congenital esotropia (including reoperations for horizontal misalignment, dissociated vertical deulation, and inferior oblique overaction) also is high, approaching 50%. The role of very early surgical intervention needs to ...

A congenital asymmetric crying facies (ACT) is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle. Associations of this facial defect with major congenital anomalies have been reported, most commonly in the cardiovascular system and less frequently involving the genitourinary, musculoskeletal, cervicofacial, respiratory, and rarely, the endocrine ...

Congenital dislocation of the patella may occur as a persistent lateral dislocation of the patella that presents with a knee flexion contracture and the patella tethered lateral to the femoral condyles or as an intermittent dislocation of the patella. In the latter syndrome, the patella dislocates completely with each flexion ...

Netherton's syndrome, a rare congenital disease of childhood, is characterized by variable cutaneous erythematous eruptions with different manifestations. A five-year-old boy, who presented with ichthyosis linearis circumflexa, atopic manifestations and pili torti, had spastic hemiparesia due to cerebral infarction. Netherton's syndrome can easily be misdiagnosed as Leiner's disease, generalized psoriasis ...

We report digitotalar dysmorphism in a grandfather, father, and a daughter. All the affected members had clasped thumbs. The father had a short stature, large zygomatic arch and a flat mandibular condyle. The newly recognized findings found in the affected girl were large maxillary deciduous central incisors, a short proximal ...

Congenital absence of aortic valvar leaflets is a rare and fatal variant of the hypoplastic left heart syndrome. We describe a recent patient seen at our institution with this lesion, illustrating a combined echocardiographic and angiographic approach that delineates both anatomy and physiology. The early mortality experienced in previous reports, ...

Intrauterine infections with varicella-zoster virus following maternal varicella in early pregnancy and resulting in congenital malformations are rare. Herein we report a child with congenital varicella syndrome characterized by low birth weight, cicatricial scarring, hypoplasia of both lower extremities with joint contracture, congenital hip dislocation, corneal opacity, atresia of the ...

BACKGROUND: Acrocephalosyndactyly is a syndrome characterized by congenital malformation of the skull with craniosynostosis, midface hypoplasia, and symmetrical webbed fusion of the fingers and toes. We describe a possible pathophysiologic mechanism for chylous ascites that developed several months after menarche in a woman with acrocephalosyndactyly and congenital lymphatic dysplasia. CASE: ...

Congenital adrenal hyperplasia syndromes result from deficiencies of enzymes involved in corticosteroid biosynthesis. Most commonly, they are due to mutations in 21-hydroxylase. This chapter describes the clinical diagnosis and management of congenital adrenal hyperplasias throughout life, including in the fetus, child and adult. These clinical recommendations are explained in the ...

A newborn male was noted to have bilateral congenital corneal opacification. Findings from examination disclosed a variety of dysmorphic features, including cutis laxa, progeroid aspect, short stature, multiple hyperextensible subluxated joints, muscular hypotonia, and hyperreflexia. Bilateral penetrating keratoplasties were performed; histopathologic examination revealed diffuse epithelial thickening, loss of the Bowman ...

This paper presents a family case of two brothers and two sisters with congenital lower limb lymphoedema, nail dystrophy, and with esotropia in two of them. They are offspring of healthy parents who are first cousins. This combination of congenital lymphoedema, nail dystrophy and esotropia in this sibship differs from ...

We report periorbital congenital melanocytic nevus associated with ankyloblepharon in a 2-month-old boy. This unusual presentation may be explained by the assumption that the development of the congenital melanocytic nevus (CMN) in utero was related to the failure of normal eyelid separation, which occurs around the 20th week of gestation.

Larsen syndrome associated with severe congenital hydrocephalus: Larsen syndrome (LS) is characterized by the association of flattened facies with a prominent forehead, a depressed nasal bridge and hypertelorism, dislocation of hips, elbows and knees, equinovarus or valgus deformities of the feet, long and tapering fingers, normal intelligence. Hydrocephalus has rarely ...

This article investigates the historical sources for the idea of the "changeling" or substitute child as an explanation for congenital intellectual disability. Pre-modern sources for this idea are elite and theological as much as popular and folkloric, nor do they refer to intellectual disability in any sense recognizable to us. ...

BACKGROUND: Congenital Spitz nevus has been reported previously in the literature, but the histopathologic features have not been examined in detail. OBJECTIVE: To histologically examine and report on congenital Spitz nevus. METHOD: We examined 10 clinically submitted congenital melanocytic nevi that were histopathologically identified as congenital Spitz nevi and compared ...

OBJECTIVES: Although rubella serosusceptibility among women of reproductive age in West Africa ranges from 10% to 30%, congenital rubella syndrome has not been reported. In Ghana, rubella immunization and serologic testing are unavailable. Our objectives were to identify congenital rubella syndrome cases, ascertain rubella antibody seroprevalence during pregnancy, and recommend ...

PURPOSE: To report the association of tonic pupil, congenital neuroblastoma, Hirschsprung disease, and central hypoventilation syndrome. METHODS: Case reports. RESULTS: Two infants with central hypoventilation syndrome and Hirschsprung disease were evaluated for dilated, nonreactive pupils present since birth. In both cases, pharmacologic testing with dilute pilocarpine confirmed denervation supersensitivity consistent ...

The advantage for maintaining oblique talus deformity as a diagnostic entity is obvious. It describes a deformity that is somewhere between the severe form of flexible pes planus and congenital convex pes valgus. It is important to recognize that the two subsets (oblique talus deformity with maintenance of the calcaneal ...

We report the case of a 13-year-old boy with acetylcholinesterase deficiency, a congenital myasthenic syndrome, who developed sleep hypoventilation syndrome during a period of rapid growth. His symptoms were insidious and life-threatening despite changes in strength or lung volume measurements that were not marked. He responded well to noninvasive nocturnal ...

Proteus syndrome is a rare congenital hamartomatous syndrome with a variety of abnormalities. It shares many features with other congenital hamartomatous disorders, but cerebriform hyperplasia of the soles and the palms is known as a quite distinctive characteristic in the dermatologic literature. The purpose of this case report is to ...

An 8-year-old Hispanic boy with a hypoplastic left thumb, absent right thumb, and short stature experienced right leg pain and limp. A right tibial lesion was imaged and found to be osteosarcoma on biopsy. A 6-year-old Hispanic girl with congenitally absent thumbs experienced a pathologic fracture of her left femur ...

Arthrogryposis multiplex congenita is a heterogeneous condition found in a number of different disorders and characterized by congenital joint contractures. We describe typical signs of congenital Brown syndrome (inability to elevate the affected eye actively or passively in full adduction) in three relatives with distal arthrogryposis multiplex congenita. We found ...

A 15-year-old girl with thoracic outlet syndrome associated with congenital pseudarthrosis of the clavicle was examined. The indication for treatment of congenital pseudarthrosis of the clavicle is discussed.

QUESTIONMy 22-year-old patient immigrated to Canada 6 years ago from a country where there are no routine immunizations. She is now at 10 weeks' gestation and was exposed to a child with rubella infection. Her immune status is unknown. Should I give her passive or active immunization? How should I ...

A knowledge of those syndromes associated with congenital cataract is essential for the paediatric ophthalmologist, as congenital cataracts are manifest in a large number of syndromes. It is important to have the correct diagnosis in such cases, not only for genetic and prognostic information, but also in order to help ...

We report Bjornstad syndrome in a 5-year-old girl with severe bilateral congenital loss of hearing and pili torti. The mode of inheritance of this rare syndrome seems to be heterogeneous. A maternal uncle of the patient was deaf from birth and his hair had shown the same abnormalities at the ...

OBJECTIVE: Kallmann's syndrome (KS) is defined by the association of olfactory deficit with irreversible, congenital gonadotrophin deficiency (IHH). We present evidence for the existence of a variant form of KS, in which endogenous gonadotrophin secretion recovers spontaneously in later life. DESIGN: Longitudinal clinical study. PATIENTS: Five men with anosmia or ...

Sudden unexpected death in childhood is rare. The commonest causes of such deaths are a result of fulminating infections of the respiratory or nervous systems. Other causes include unsuspected congenital abnormalities of the heart, acute metabolic disorders, and rarities such as internal hemorrhages and pulmonary thrombosis. Recognition of children with ...

We present the case of a nine-year-old boy afflicted with Ondine's curse, who developed complete atrioventricular heart block after a single bolus of propofol for induction of anaesthesia for strabismus surgery. Ondine's curse, the other name for congenital central hypoventilation syndrome, is characterized by a generalized disorder of autonomic function. ...

The presence of epicanthal folds and lack of supratarsal folds are unique features in most Asian eyelids. Although many surgical procedures are available to eliminate epicanthal folds, scarring on the medial canthus is still an obstacle for surgeons to overcome. From January of 1989 to November of 1997, we used ...

Lymphangiosarcoma is a rare, aggressive, vascular neoplasm arising in chronic congenital or acquired lymphedema. Although it is most frequently associated with post-mastectomy lymphedema (Stewart-Treves's syndrome), lymphangiosarcoma can exceptionally arise in congenital hereditary lymphedema (Milroy's syndrome and Meige's syndrome) and non-hereditary lymphedema (congenital, praecox or forme tarde lymphedemas). We report a ...