منابع مشابه
Pallister-Killian syndrome
PATIENT Male, 0 FINAL DIAGNOSIS: Pallister-Killian syndrome Symptoms: Decidious tooth • flattened nasal bridge • frontal bossing • grooved palate • low-set ears • mid-facial hypoplasia • nuchal fold thickening • right inquinal testis • shortened upper extremities • undescended left intraabdominal testis • widely spaced nipples MEDICATION - Clinical Procedure: - Specialty: Pediatrics and Neona...
متن کاملFamilial Pallister-Hall syndrome.
In their report of sibs with the Pallister-Hall syndrome, Thomas et al' make the points that choanal atresia may be a feature of this condition and that it may be caused by a dominant gene. We have recently encountered an infant in whom the findings lend support to both of these suggestions. Our patient, a female, was the first child born to a healthy 31 year old female and her healthy and unre...
متن کاملFamilial Pallister-Hall syndrome.
In their report of sibs with the Pallister-Hall syndrome, Thomas et al' make the points that choanal atresia may be a feature of this condition and that it may be caused by a dominant gene. We have recently encountered an infant in whom the findings lend support to both of these suggestions. Our patient, a female, was the first child born to a healthy 31 year old female and her healthy and unre...
متن کاملTetrasomy 12p (Pallister-Killian syndrome).
First described in 1977 by Pallister et all and independently reported in 1981 by Killian and Teschler-Nicola,2 the syndrome is known for its many anomalies and by various names including Pallistermosaic syndrome, Pallister-Killian syndrome, Pallister-Killian-Teschler-Nicola syndrome, KillianTeschler-Nicola syndrome, and others. Some early cases were misinterpreted as mosaic tetrasomy 21q q. It...
متن کاملCardiac manifestations of Pallister-Killian syndrome.
Pallister-Killian syndrome (PKS) is a sporadic multisystem genetic diagnosis characterized by facial dysmorphia, variable developmental delay and intellectual impairment, hypotonia, hearing loss, seizures, differences in skin pigmentation, temporal alopecia, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities. Although congenital heart defects have been described in...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2018
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.60695