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...

Agenesis of paranasal sinuses has only been described in case reports of patients with primary ciliary dyskinesia (PCD). As agenesis of paranasal sinuses may contribute to low nasal nitric oxide levels, a common finding in PCD, we speculated that this condition might frequently occur in PCD patients. Patients referred for PCD evaluation were consecutively recruited for 30 months. In addition to...

  Cartilage hair hypoplasia (CHH), is a rare cause of metaphyseal chondrodysplasia and short stature. Other features included hair abnormality, immunodeficiency, anemia, gastrointestinal disorders (Hirschsprung disease, celiac, …) and increased risk of cancer. The disease is an autosomal recessive disorder and previously has not been reported in Iran. We report a 9-year-old boy diagnosed as car...

Congenital nasal pyriform aperture stenosis may be isolated or associated with other midline anomalies. The aim of the study was to describe the measurements and features of the interorbital structure and midface in congenital nasal pyriform aperture stenosis. The computed tomography scans of eight patients (two girls and six boys) were retrospectively reviewed. Several distances were obtained ...

OBJECTIVE To review systematically the literature on diagnostic tests and performance of second-trimester sonographic assessment of nasal bone (NB) in identifying fetuses affected by Down syndrome. METHODS A search of studies involving screening tests for NB evaluation and measurements was carried out in the main international bibliographic databases (MEDLINE, EMBASE and CINAHL). Those consid...

The fetal nasal bone length (FNBL) is a recent sonographic marker included in second trimester genetic sonography which varies with race and ethnicity. The importance of measuring FNBL is in the prenatal diagnosis of Down's syndrome (DS), the most common chromosomal abnormality. Nasal bone hypoplasia or absence is one of the frequent features of DS. Different studies conducted in different part...

Background: The measurement of nasal bone length (NBL) according to gestational age and setting nomogram helps to ascertain NB hypoplasia. This can be used for early detection of trisomy 21 and other chromosomal abnormalities in low risk population. The objective of the study was to obtain nomogram of fetal nasal bone length at 11-14 weeks gestation with known prognosis pregnancies. Methods: A ...

Silent Sinus Syndrome (SSS) is known to be a rare clinical condition, characterized by spontaneous and progressive enophthalmos and hypoglobus associated with atelectasis of the maxillary sinus and alteration of the orbital floor. Most of the patients with this syndrome present with ophthalmological complaints without any nasal sinus symptoms, and it typically has a painless course and slow dev...