Table 2. Summary of the clinical findings in 20 adolescents and adults with HPE.

#	Sex/age	Age at diagnosis	Sz	VP shunt	G-tube feeding	Scoliosis	DI	SNHL	Eye exam	Other	Height (m)/BMI	HC (cm)
1	M/17	6 m	−	−	−	+	−	−	Crowded discs and optic atrophy	Congenital scoliosis, hemivertebrae, missing ribs, mood disorder	1.55/21	53
2	M/24	2 m	−	−	−	+	−	−	Cortical visual impairment		1.39/24	47.5
3	F/33	Birth	−	+	−	+	−	−	Cortical visual impairment	Parietal encephalocele, nephrolithiasis	1.27/16	47
4	F/15	Birth	+a	+	+	+	−	+	Hypoplastic optic nerves, dry eyes, ptosis	Parietal encephalocele, scarring alopecia, precocious puberty, temp dysregulation	1.27/17	42
5	F/19	Birth	+	+	+	+	Mild	−	Dry eyes, ptosis	Cholelithiasis, narcolepsy	1.46/22	50.5
6	F/33	Birth	+a	+	+	+	−	+	Cortical vision impairment, optic atrophy	Parietal encephalocele	1.41/NA	49
7	F/20	1 y	+	−	−	Mild	−	+	Dry eyes, microcornea	GH deficiency, hypothyroidism, OCD, ADD, leg length discrepancy	1.51b/28	55.5
8	M/19	1 m	−	−	+	+	+	+	Cortical vision impairment, hypertelorism, bilateral retinal degeneration	Ulcerative colitis, ectopic left kidney	1.65/12	55.5
9	F/19	Birth	+	+	−	+	−	−	Ptosis, strabismus	Parietal encephalocele, hypotelorism, absent nasal bone	1.6/NA	54
10	F/17	3 y	−	−	−	Mild	−	−	Hyperintense foveal anomaly		1.55/20	51
11	F/27	17 y	−	−	−	+	−	−	Hypotelorism, strabismus, mild cataracts	Cholelithiasis, anosmia, missing teeth, single central incisor, hypotelorism.	1.5/19	52
12	F/23	1 y	−	−	+	+	Mild	+	Retinal coloboma, no vision on right side	OCD, mood disorder, cyclic vomiting, insomnia	1.5/35	46
13	M/22	Birth	−	+	+	Mild	+	+		Hypothyroidism	NA/NA	NA
14	F/18	Birth	+	−	+	−	+	−	Hypotelorism, small optic nerves	Cholelithiasis, fatty liver per US, cleft lip and palate, absent nasal bone, hypothyroidism	1.45/28	51
15	F/27	1 y	+	−	+	+	+	−		Horseshoe kidney	NA/NA	NA
16	F/23	18 m	+c	−	+	+	−	−		Dysplastic cortex with polymicrogyria	1.41/19	47.5
17	M/28	Birth	−	+	+	+	−	−			1.42/23	52
18	F/20	Birth	−	−	−	Mild	−	−	−	Cleft lip and palate, absent nasal bone, hypotelorism, mood disorder, psychosis, ADD	1.62/13	49
19	F/32	3 m	+	−	+	+	Mild	−	−	Recurrent pancreatitis, paralytic ileus, sinus tachycardia, tracheostomy, temperature dysregulation	1.54/23	51
20	M/27d	Birth	−	+	+	+	+	−	Strabismus	Reactive airway disease and recurrent aspirations	1.52/24	NA

ADD, attention deficit disorder; DI, diabetes insipidus; GH, growth hormone; G-tube, gastrostomy tube; HC, head circumference; HPE, holoprosencephaly; NA, not available; OCD, obsessive-compulsive disorder; Sz, seizures; SNHL, sensorineural hearing loss; US, ultrasound; VP, ventriculoperitoneal.

^aRefractory on multiple antiepileptic medications;

^bpost-GH therapy;

^cresolved;

^ddied at 27 years.