His back is straight with a mildly asymmetric sacral dimple.
Concerning the extremities, a palmar crease on the right was seen and also an abnormal positioning of the anus with short perineum and sacral dimple.
A sacral dimple was noted at birth, however, no occult spinal dysraphism was identified through spine MRI.
He had plagioscaphocephaly, low-set posteriorly rotated ears, high arched eyebrows, elongated palpebral fissures, high and very narrow palate, funnel chest, sacral dimple, and hypoplastic genitalia.
There are several patients also present in the DECIPHER database who have duplications overlapping this large duplication in the child, including 280 551, with hirsuitism, feeding difficulties and global developmental delay; 283 584, with sacral dimple and low set ears; 1561, with frontal bossing and sacral dimple.
At autopsy, midline fusion defects were observed in fetuses with WHS ranging from minor abnormalities such as scalp defect, hypertelorism, pulmonary isomerism, common mesentery, hypospadias and sacral dimple, to cleft palate, corpus callosum agenesis, ventricular septal defect and diaphragmatic hernia.
MDS may also be associated with congenital heart diseases, genitourinary abnormalities, and sacral dimples [1, 10].
Angiomas, congenital nevi, pre-auricular appendices, sinus nodules, sacral dimples, atresia of the tears ducts, ovarian cysts, hydrocele, hip dislocation not associated to dysplasia, renal pelvis dilatation of less than 10 mm (without hydronephrosis or urethral atresia), inguinal and umbilical hernias were not classified as BDs and therefore also not included.
Three nondimensional design variables are defined using the dimpled channel height, dimple print diameter, dimple spacing, and dimple depth.
Fearnley was born with lumbar sacral agenesis.
