Table 2.

Clinical description of BS patients

Patient ID, gender, age at diagnosis	BLM germline mutation	History of IUGR	Parameters at birth	History of feeding difficulties	Height	Facial appearance	Skin lesions	Infections	Immune status	Cancer	Other clinical features
Patient 1 Male, 12 years	c.1642C>T (p.Q548X)/c.2512C>T (p.Q838X)	yes	height: 44 cm; weight: 1,765 g; OFC: 28 cm; Apgar score: 7–8	yes	138 cm (–1.6 SD)	long face, prominent nose and ears	multiple caféau-lait spots; sun-induced erythema around nose; facial seborrheic dermatitis instead of erythema since the age of 9 years	recurrent respiratory infections; 2 episodes of pneumonia (at the age of 10 and 12 years); chronic rhinitis	low IgM	–	sparseness of subcutaneous fat before puberty, but premature pubescence accompanied by excessive weight gain
Patient 2 Male, 6 years	c.1642C>T (p.Q548X)/c.1642C>T (p.Q548X)	yes	height: 50 cm; weight: 2,850 g; OFC: 33.5 cm; Apgar score 7–8	yes	105 cm (–2.1 SD)	long face, prominent nose	none	pneumonia at the first year of life; recurrent respiratory infections; enterocolitis and pneumonia during cancer chemotherapy	low IgA, IgM, IgG	medullo-blastoma at the age of 4 years	sparseness of subcutaneous fat; chronic diarrhea; lactose intolerance

Ig, immunoglobulin; IUGR, intrauterine growth retardation; OFC, occipitofrontal circumference. Patient 1 is from Kazan and patient 2 from St. Petersburg.