micrognathism/homa

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High maternal fever during gestation and severe congenital limb disruptions.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Hyperthermia is defined as a temperature of at least 1.5 degrees C over the normal core body temperature. It is a proven teratogen in animals and in humans. The type of defects induced by hyperthermia in experimental animals are: anencephaly/exencephaly, encephalocele, microphthalmia,

[Two pediatric cases of malignant hyperthermia caused by sevoflurane].

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

We experienced two cases of malignant hyperthermia (MH) triggered by sevoflurane. Case 1 was a six-year-old girl, 15.8 kg, undergoing strabismus repair. She had flat back, elevated diaphragm and high arched palate. Anesthesia was induced and maintained with sevoflurane and nitrous oxide in oxygen.

Delineation of a multiple congenital abnormality syndrome in the offspring of pregnant women affected with high fever-related disorders: a population-based study.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Our previous study showed an association between high fever-related maternal diseases during the second and/or third gestational months and a higher risk of multiple congenital abnormalities (MCA) in the population-based large dataset of the Hungarian Case-Control Surveillance of Congenital

One in three: congenital bent bone disease and intermittent hyperthermia in three siblings with stuve-wiedemann syndrome.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Stuve-Wiedemann syndrome (STWS) is a rare disorder characterised by congenital bowing of the long bones, contractures of the joints, neonatal onset of respiratory distress, sucking and swallowing difficulties, dysautonomia presenting as episodic hyperthermia, and usually an early death. Three

King-Denborough Syndrome: report of two Brazilian cases.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

We report on two boys aged 2 and 6 years-old respectively with dysmorphic face, ptosis, down-slanting palpebral fissures, hypertelorism, epicanthic folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, palmar simian line, pectus excavatum, winging of the scapulae,

Spinal anesthesia in a patient with Schwartz-Jampel syndrome

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Background: Schwartz-Jampel syndrome (SJS) is a very rare inherited disorder characterized by multiple skeletal deformities, limited joint mobility, micrognathia, blepharophimosis, myotonia, and growth retardation. SJS is caused by

[Anesthetic management of a patient with Smith-Lemli-Opitz syndrome complicated with thrombocytopenia].

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive syndrome, characterized by severe growth failure and congenital anomalies (for example dysgenesis, mental retardation, renal and cardiac defects, and various malformation). SLOS results from error of a cholesterol enzyme and generalized

Juvenile rheumatoid arthritis with IgA deficiency and appearance with febrile episode.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

A 24-year-old female had juvenile rheumatoid arthritis since the age of 3, with systemic manifestations such as fever, polyarthralgia, micrognathia, splenomegaly, hepatomegaly, lymphadenopathy, subcutaneous nodules, hidden rheumatoid factor of IgG type. Particularly noteworthy is selective IgA

Oromandibular Limb Hypogenesis Syndrome Type IIB: Case Report of Hypoglossia-Hypodactyly.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Hypoglossia-hypodactyly is a rare congenital anomaly affecting the tongue and the limbs. Hall in 1971 classified it under a complex group of disorders called oromandibular limb hypogenesis syndromes. It is an extremely rare condition with around 40 cases reported in the world literature. The cause

Significant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

BACKGROUND The Marshall-Stickler phenotype is an autosomal dominant trait comprising ocular abnormalities, sensorineural hearing loss, craniofacial anomalies, and anhidrotic ectodermal dysplasia. METHODS A 5-year-old boy from non-consanguineous family in Austria was born with features of

[Anesthetic management of the King-Denborough syndrome].

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

The King-Denborough syndrome (KDS) is a congenital myopathy with musculoskeletal abnormalities, and definitely associated with susceptibility to malignant hyperthermia (MH). We present the first report in Japan concerning the management of a KDS patient. A 2-year-old boy was scheduled for

Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

We report on five sibs affected by congenital microcephaly, growth retardation, sloping forehead, bitemporal grooving and micrognathia. Generalized tonic-clonic seizures started very early in life. Postnatal brain computerized tomography (CT) presented cortical band-like calcification, calcification

Schwartz-Jampel syndrome: a review of the literature and case report.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive skeletal dysplasia associated with myotonia. The manifestations of SJS include short stature, blepharophimosis, and skeletal anomalies. The combination of skeletal and muscular abnormalities may result in oro-dental manifestations such as

Anesthetic experience using total intra-venous anesthesia for a patient with Wolf-Hirschhorn syndrome -A case report-.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

We present here the case of a 33-month-old male patient with Wolf-Hirschhorn syndrome (WHS) and who underwent tympanoplasty and myringotomy. WHS is caused by a rare chromosomal abnormality, which is the deletion of the short arm of chromosome number 4. The typical craniofacial features of WHS

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