Table 1 Dysmorphic characteristics in patients with NF1 microdeletions.

	No. of patients*		Facial dysmorphism		Prominent forehead		Coarse face		Broad, fleshy nose +/− broad nasal bridge		Hyper‐telorism		Tele‐canthus		Down‐slanted palpebral fissures		Ptosis		Micro‐gnathia		Large ears		Facial asymmetry
Kayes et al7,13†	5		5		1		1				4				2		4		5		1
Wu et al28	4		4		1		1				2				1		2		2
Leppig et al16	2		2				1		1		1						1
Colley et al9	2		2								1				2
Upadhyaya et al6	1		1		1												1		1
Leppig et al17	6		6				1		5		1		6		6		1		4
Tonsgard et al3	5		3		1		1		1		1										1		1
Wu et al29	2		2						2						2		1
Cnossen et al4; Van Asperen et al26	5		5		1		5		3		1						2		4		2		2
Valero et al25	6		3				1																1
Upadhyaya et al24‡	18		10
Ruggieri et al22	1		1		1		1		1		1								1		1
Riva et al38‡; Riva et al23	7		4		1		3		4		1		1		3								1
Lopez‐Correa et al18	7		6				6				6						6
Dorschner et al10	9		9				4		1		3		1		1		4
Jenne et al12	1		1						1
Oktenli et al20	1		1				1		1		1										1
Venturin et al27	14		10		2		1		5		6				2		1		1		2
Kehrer‐Sawatzki et al14	16		7				7		7		7				7
Our patients	6		6		3		3		5		4				5		2		1		2
Total	118		88		12		37		37		40		8		31		25		19		10		5

Includes four patients with small intragenic deletion from report by Upadhyaya et al 1998. Thirteen patients are mosaic (Lazaro et al,⁵ Wu et al,²⁸ Colman et al,³⁷ Ainsworth et al,⁸ Tonsgard et al,³ Rasmussen et al 1997,²¹ Riva et al,²³ Kehrer‐Sawatzki et al,¹⁴). *Some reports provided only limited information about phenotype of patients; †four patients reported in Kayes et al,⁷,¹³ later also reported in Dorschner et al,¹⁰ and in Jenne et al,¹¹,¹² excluded from later references; ‡includes only 16 of 22 reported patients for whom information about dysmorphism was available.