Timing of diagnosis, TOPFA, risk and timing of infant mortality were highly variable across the categories of CHD in ACC-CHD, suggesting that it may be a useful measure of severity, and hence, predictor of outcomes of CHD.

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ABSTRACT:We aimed to determine the occurrence of pituitary dysfunction and additional malformations in patients with congenital nasal pyriform aperture stenosis (CNPAS) and to predict which patients are at risk of pituitary dysfunction. Among the 40 studied patients, hypothalamo-pituitary (HP) axis abnormalities were found in 16 patients (40%), with endocrine dysfunction (n ϭ 9) and/or abnormal HP MRI findings (n ϭ 15). A normal HP axis on MRI was highly predictive of normal endocrine function. Of the 40 patients, 31 had additional abnormalities in the cranio-facial area (n ϭ 26), the brain (n ϭ 12), the vertebrae (n ϭ 5), the limbs (n ϭ 4), the heart (n ϭ 7) and the kidney (n ϭ 3). Six patients had syndromic associations: VACTERL (n ϭ 4), CHARGE (n ϭ 1) and RHYNS (n ϭ 1) syndromes. Craniofacial and brain malformations were more common in patients with HP axis abnormalities than in patients with normal HP axis. Familial history of midline defects and/or consanguinity were found in 30% of patients.In conclusion, HP axis abnormalities are frequent in patients with CNPAS and justify MRI of the brain early in life and clinical evaluation to screen for patients with pituitary insufficiency. CNPAS may be a genetically heterogeneous condition with a large phenotypic variability that shares common etiological mechanisms with the various forms of the holoprosencephaly phenotype. C ongenital nasal pyriform aperture stenosis (CNPAS) is a rare condition that causes airway obstruction in newborn children, which was first described in 1989 (1). It is caused by an overgrowth of the nasal process of the maxillar, reducing the anterior part of the nasal cavity. It can be diagnosed by physical examination and computed tomography scan. Surgical intervention early in life is usually needed (2-4). CNPAS must be distinguished to choanal atresia, which causes a reduction of the posterior part of the nasal cavity (1,3).There is limited clinical data concerning this syndrome and the disorder is considered as a mild form of holoprosencephaly (5-9). In patients with CNPAS, familial history of holoprosencephaly, cleft palate and ocular coloboma and/or consanguinity have occasionally been reported. An autosomal recessive inheritance of the disorder has been suspected (3,8,10,11). CNPAS occurs as an isolated condition or in association with other midline defects (3-7,9 -14). Solitary median maxillary central incisor (SMMCI) (3)(4)(5)(6)(12)(13)(14) and/or pituitary deficiencies (3,7,10,12,15) have been reported. The clinical symptoms of pituitary dysfunction are not always obvious in early childhood and can be potentially severe. Without early diagnosis and appropriate hormonal treatment, morbidity and mortality is high (3,10,11,16). Therefore, the study of additional congenital abnormalities is important for the management and prognosis of the patients. A systematic analysis of the whole phenotypic spectrum associated with CNPAS has not been carried out in previous studies. Therefore, we aimed to investigate the occurrence of pituitary abno...