The clinical geneticist and the evaluation of failure to thrive versus failure to feed.

Common clinical genetic referrals for the pediatric patient include a single major or multiple minor anomalies, dysmorphic features, especially when accompanied by developmental delay or intellectual disability, and failure to thrive (FTT). This review provides pediatric definitions of FTT and the genetic differential for FTT, which includes chromosomal disorders, microdeletion/duplication syndromes, uniparental disomy/methylation disorder, disorders of DNA repair, teratogens, metabolic syndromes, and skeletal dysplasias. Three clinical genetics cases highlight challenges in deciphering the cause of FTT. The review concludes with a ten-step approach that might improve diagnostic ability in differentiating FTT cases (those with genetic or other metabolic causes) from "failure to feed," in other words FTT as the direct result of neglect and/or child abuse.

Neonatal thoracoscopic repair of congenital diaphragmatic hernia: selection criteria for successful outcome.

BACKGROUND/PURPOSE: Complications of open conversion, hypercarbia, and intestinal injury have plagued minimally invasive approaches to congenital diaphragmatic hernia (CDH) repair in neonates. To safely begin using minimally invasive techniques for neonatal CDH repair, we formulated preoperative selection criteria and operative techniques that would enhance chances for successful thoracoscopic primary diaphragm repair and uncomplicated outcome. METHODS: During the period from January 2003 to October 2004, neonates were selected for thoracoscopic CDH repair using anatomic and physiologic criteria. Anatomically, all patients were required to have stomach in the abdomen by radiography. Physiologically, all patients were required to be on minimal ventilator support with preoperative ventilator peak inspiratory pressures in the low 20s mm Hg. No patient could have clinical evidence of pulmonary hypertension at the time of surgery. Thoracoscopic CDH repair was performed using 3 trocars (3 and 5 mm). The hernia contents were reduced into the abdomen using 5-mm Hg insufflation, and the diaphragms were repaired primarily using interrupted 3-0 Ethibond simple sutures (Ethicon, Inc, Piscataway, NJ). Posterolateral diaphragm stitches were passed around the posterolateral ribs and tied extracorporeally. RESULTS: Thirty neonates with CDH were admitted to Children's Hospital Boston and Vanderbilt Children's Hospital during the study period. Eight patients (27%) met selection criteria and 7 underwent thoracoscopic CDH repair. Primary diaphragmatic repair was successfully accomplished thoracoscopically in all neonates without perioperative complication. Preoperative anatomic criteria correlated accurately with intact esophageal hiatus and primary diaphragm repair. Physiologically, each patient tolerated intrathoracic insufflation and CDH repair without clinical pulmonary hypertension or blood pressure lability. Three patients had intraoperative respiratory acidosis that was reversed with ventilator changes. Operative times averaged 152 minutes and ranged from 212 to 106 minutes. Postoperative mechanical ventilation ranged from 0 to 7 days, and the length of hospitalization ranged from 5 to 32 days. Longest follow-up has been 17 months. One patient required reoperation for recurrent CDH at 10 months after repair, but there have been no other long-term complications. CONCLUSIONS: Neonatal thoracoscopic CDH repair is safe in selected patients who have good preoperative pulmonary function and anatomy amenable to primary diaphragmatic repair. A wider range of neonates may be acceptable for thoracoscopic CDH repair with increasing surgical experience.