Table 1

Clinical signs in the males with BFLS

Traits	III.4	III.5	III.6	III.7
*At age 19 years (III.4), 21 years (III.5), 20 years (III.6) and 19 years (III.7).
Height	152 cm	178 cm	165 cm	148 cm
	<3rd centile	Normal (59th centile)	8th centile	<3rd centile
Age (at examination)	16	18	17	16
Gynaecomastia	+	+	+	+
Testicles	Cryptorchidism	Right: small	Right: small	Cryptorchidism
		Left: normal	Left: normal
Penis	Small	Normal	Small	Small
Pubic hair	Solitary	Normal	Normal	Solitary
Facial hair	Absent	Solitary moustache hair	Absent	Absent
Axillary hair	Absent	Solitary	Solitary	Solitary
Hypertelorism	+	+	+	±
Palpebral fissures	Intermediate	Narrow	Intermediate	Narrow
Strabismus	Divergent	–	Convergent	Convergent
Large, fleshy ears	+	+	+	+
High palate	+	+	+	+
Supraorbital ridge	Prominent	Prominent	Prominent	Intermediate
Teeth	Malocclusion	Rare	Normal	Rare
Short neck	+	–	+	+
Clinodactyly 5th finger	+	+	+	+
Medial orientation of 5th finger distal phalanx	+	+	+	+
“Sandal gap” on feet	+	+	+	+
Spine	Slightly curved	Slightly curved	Kyphosis	Scoliosis
FSH (IU/l): normal 1–14 adult	16.9*	11.2*	9.4*	9.5*
LH (IU/l): normal 1.5–9.2 adult	6.9*	7.8*	7.5*	5.3*
Testosterone (nmol/l): normal 10–35 adult	5.4*	6.2*	6.4*	14.3*

Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome

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