نتایج جستجو برای: hypertelorism
تعداد نتایج: 501 فیلتر نتایج به سال:
Shima Shahjouei, MD; Farideh Nejat*, MD, MPH; El Mostafa Khashab, MD, PhD 1. Department of Neurosurgery, Tehran University of Medical Sciences, Tehran, Iran 2. Children’s Medical Center, Pediatric Center of Excellence, Tehran, Iran 3. Department of Neurosurgery, Hackensack University Medical Center, New Jersey, USA Received: Jun 21, 2012; Accepted: Oct 31, 2012; Online Available: Dec 05, 2012 E...
A child with a de novo interstitial deletion, 46,XX,del(2)(q31q33), is described. Clinical features included psychomotor retardation, hypotonia, microcephaly, hypertelorism, downward slanting palpebral fissures, macrostomia, cleft palate, micrognathia, abnormal ears, overlapping fingers, simian creases, and rocker bottom feet.
We report two Japanese patients with Schinzel-Giedion syndrome. When polyhydramnios is observed, additional fetal findings such as overlapping fingers, hydrocephalus, hydronephrosis, and very characteristic facial appearance comprising high, prominent forehead, hypertelorism, and depressed nasal root may suggest Schinzel-Giedion syndrome.
A male infant with partial trisomy 6q is described. This patient shares features with 12 previously reported cases including hypertelorism, cleft soft palate, bow shaped mouth, micrognathia, short, laterally webbed neck, clubbing of hands and feet, syndactyly, and growth retardation. In addition, visceral anomalies less frequently reported are described. These observations may extend the phenot...
Andersen-Tawil Syndrome (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (short stature, scoliosis, clinodactyly, hypertelorism, small or prominent low set ears, micrognathia and broad forehead). We report a case of hypokalemic periodic paralysis with dysmorphic facial features and ventricular arrhythmia resembling A...
lentiginosis prompted eval¬ uation for a unifying diagnosis. Disorders of pigmentation have been reported in association with various cardiac abnormalities, but classification remains controversial. Features of both cardiomyopathic lentiginosis2 and LEOPARD syndrome,3-5 a mnemonic code for Zentiginosis, ECG changes, ocular hypertelorism, pulmonic steno¬ sis, abnormal genitalia, growth retardati...
Three children have been reported with a combination of iris coloboma, ptosis, hypertelorism, and growth and mental retardation with possible autosomal recessive inheritance. We report a single case whose clinical features encompass this syndrome and Noonan syndrome, and discuss the possible interpretations of this complex phenotype.
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