Because of repetitive bile vomiting, severe constipation and chronic abdominal distension, the child was readmitted and several rectal biopsies were performed. [nature.com]

Because of repetitive bile vomiting, severe constipation and chronic abdominal distension, the child was readmitted and several rectal biopsies were performed. [nature.com]

They demonstrated alternately a paucity or absence of intramural ganglion cells of myenteric and submucosal plexuses in colic mucosa as well as in muscularis and ascertained the existence of HSCR. [nature.com]

At 13 months, postnatal growth retardation became obvious with weight of 6 kg ( 4 SD) and length of 67 cm ( 3 SD) and there was a relative macrocephaly with normal OFC (47 cm). The child had feeding difficulties and did not eat solids. [nature.com]

Facial dysmorphy included a small triangular-shaped face with frontal bosses and narrow palpebral fissures, a small mouth with thin lips, a pointed chin and low posterior-rotated and overfolded ears. [nature.com]

Facial dysmorphy included a small triangular-shaped face with frontal bosses and narrow palpebral fissures, a small mouth with thin lips, a pointed chin and low posterior-rotated and overfolded ears. [nature.com]