A prospective observational study of associated anomalies in Hirschsprung’s disease

Table 6 Other anomalies detected during the study

ID	Sex	HSCR type	Associated anomalies	Screening results
			Chromosomal anomalies
1	F	TCSA	Down Syndrome
2	F	TCSA	Turner Syndrome	CHD
3	M	L-HSCR	Down Syndrome	VI
4	M	S-HSCR	Down Syndrome	CHD; VI
5	F	S-HSCR	Down Syndrome	CHD; CAKUT; VI
6	M	S-HSCR	Down Syndrome	CHD; VI
7	M	S-HSCR	Down Syndrome
8	M	S-HSCR	Down Syndrome	CAKUT
9	M	S-HSCR	Cat-Eye Syndrome	CHD; CAKUT; VI; HI
			Metabolic issues
10	M	TCSA	GH deficiency	VI
11	M	S-HSCR	Familial Hyper-TG	VI
12	M	S-HSCR	Hypothyroidism
13	M	S-HSCR	Osteoporosis	VI
14	M	S-HSCR	Precocious Puberty	VI
			Gastrointestinal abnormalities
15	F	TCSA	Gut Atresia	VI
16*	M	TCSA	Coeliac Disease
8	M	S-HSCR	Pancreas anularis	CHD; CAKUT
8	M	S-HSCR	Malrotation	CHD; CAKUT
			Genital Abnormalities
17	M	L-HSCR	Cryptorchidism	CAKUT; HI; VI
11	M	S-HSCR	Cryptorchidism	VI
			Tumors
18	M	TCSA	FMTC	CAKUT; VI
19	M	S-HSCR	FMTC	VI
			Other Anomalies
16*	M	TCSA	Seizures
17	M	L-HSCR	Ondine Syndrome	CAKUT; HI; VI
20	M	S-HSCR	Cleft Palate	CAKUT
21*	M	S-HSCR	Dyslessia	CAKUT; VI; CCA
22	M	S-HSCR	ADHD	VI

Most of these anomalies were already known and occurred in association with other associated anomalies in a syndromic fashion.
Legend: FMTC = Familial Medullary Thyroid Carcinoma; ADHD, Attention Deficit Hyperactivity Disorder; CCHS, Congenital Central Hypoventilation Syndrome; CCA, Corpus Callosum Agenesis; * = Mowat-Wilson excluded.
Four patients had more than one associated anomaly detected outside the screening (pts number 8, 11, 16 and 17). The great heterogeneity of organs and systems is evident in our series of patients. Only 4 of these patients had no further anomalies detected during the study.

ISSN: 1750-1172