A 63-year-old woman was referred to the sleep center complaining of daytime sleepiness, snoring, and insomnia. She was single and never married but, on a recent business trip, was noted by a colleague to snore loudly. There was no report of witnessed apnea. She slept 8 to 8.5 hours per night but complained of daytime drowsiness and mental fogginess, particularly in the afternoons. She occasiona...

how to cite this article: barzegar m, sayadnasiri m, tabrizi a. epilepsy as a rare neurologic manifestation of oculodentodigitalis dysplasia. iran j child neurol 2012; 6(3): 39-43. oculodentodigitalis dysplasia (oddd) is an extremely rare inherited disorderinvolving the development of the face, eyes, teeth and limbs. in addition,some patients develop neurological problems mostly a spastic parap...

BACKGROUND Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, sensorineural deafness photosens...

A 4 month old male infant was referred to the genetic clinic for investigation of 'odd facies'. He had been admitted to the paediatric ward with respiratory infection and septicaemia. He was the first child of consanguineous parents (first cousins), born after 40 weeks of gestation. There was no history or suggestion of exposure to teratogens or infection during the pregnancy and delivery was n...

OBESITY AND CENTRAL ADIPOSITY are well established risk factors for obstructive sleep apnea-hypopnea (1). One implied mechanism for their effects is by increasing the mass of tissues, including the lateral pharyngeal fat pads surrounding the airway, thus decreasing the size of the channel for air; another is by a reduction in functional residual capacity in recumbancy and by tracheal linkage re...

We report on the clinical and molecular findings of a patient who presented alopecia, epicanthus, micrognathia, retrognathia, high arched palate, hypertelorism, Chiari type I malformation, mixed-type hearing loss but with normal heartbeat Q-T interval, malformed earlobes, down-slanted palpebral fissures, downturned corners of the mouth, syndactyly, atopic eczema, and seizures. The patient was a...

INTRODUCTION Nager syndrome is a malformation resulting from problems in the development of the first and second branchial arches and limb buds. The cause of the abnormal development of the pharyngeal arches in Nager syndrome is unknown. It is also unclear why affected individuals have bone abnormalities in their arms and legs. Nager syndrome is thought to have an autosomal recessive inheritanc...

Individuals with mosaic trisomy 18, only approximately 5% of all trisomy 18 cases, carry both a trisomy 18 and an euploid cell line. Their clinical findings are highly variable, from the absence of dysmorphic features to the complete trisomy 18 syndrome. A five-month-old daughter of a 38-year-old mother, with vomiting and feeding problems, was referred to our department. She was undernourished ...

Intraoperative aortic dissection in a Turner syndrome patient Aortic dissection is a rare but catastrophic complication of cardiac surgery with a mortality ranging from 24-43% (1). Turner syndrome (TS) patients are known to be at an increased risk of undergoing an insidious aortic dissec-tion, however, little is known about their risk of undergoing iatrogenic dissection. In addition to airway m...

The DiGeorge, Velocardiofacial, and Conotruncal Anomaly Face syndromes (DGS/VCFS/CTAF) are knowncollectively as the 22q11.2 deletion syndrome (22q11 DS) [Shaikh et al., 2000; Swillen et al., 2000]. Although most individuals have the same large 3 Mb 22q11.2 de novo deletion, a recurrent 1.5–2 Mb proximally nested deletion is more common in familial cases of 22q11.2 DS [Iascone et al., 2002; Adey...