hypertelorism/fever

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,

Gómez-López-Hernández syndrome (GLHS) is a rare neurocutaneous syndrome characterized by the triad of rhombencephalosynapsis, trigeminal anesthesia, and bilateral parieto-occipital alopecia. We herein describe the first Japanese patient with GLHS characterized by the standard triad with typical

A 1-year-old male infant was found to have a de novo unbalanced translocation, resulting in trisomy for a portion of the short arm of chromosome 3, i.e. 46,XY,der(7)t(3;7) (p24.1;p22). Previous cases with a so-called "trisomy 3p syndrome" were evaluated by GTG banding, while we attempted to

The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, cleft lip or palate, cardiac defects, growth and mental retardation and seizures. The currently accepted WHS critical region (WHSCR) is

An 8-month-old girl with a history of asphyxia and respiratory distress immediately after birth was hospitalized at her fourth month of age with the diagnosis of kidney infection and it was revealed that she had a unilateral multicystic dysplastic kidney. In recent admission, she presented to

We report on a consanguineous Lebanese family where two sibs had an axial hypotonia, developmental delay, hirsutism, large fontanels with delayed closure, and dysmorphic facial features that consist of frontal bossing, prominent eyes, slightly down-slanting palpebral fissures, hypertelorism,

Michelin tire baby syndrome (MTBS) is a benign hamartomatous condition with ring-like lesions present on the limbs and trunk. MTBS is a rare genodermatosis. According to our search, only 20 cases have been reported. We present a case of a six-month-old female child, with complaints of fever and