Table 1.

Evolution of clinical features in patients who underwent bone marrow transplantation or HSCT. This table does not include the female patient described by Islam et al. [16], who was transplanted at the age of 11 months and survived at least 2 years, and for whom very scarce information is available.

References		Yamada et al., 1998 [15]	Montano et al., 2016 [4]					Sisinni et al., 2018 [18]	Furlan et al., 2018 [17]	Present Case
Age at diagnosis (months)		1 (girl)	22 (girl)	24 (boy)	4 (boy)	26 (boy)	0.5 (girl)	11 (girl)	1 (boy)	0.5 (boy)
Clinical signs	Hydrops fetalis	NM	NM	NM	NM	Yes	Yes	No	Yes	No
	Head, eyes, ear-nose-throat	Coarse face Mild deafness	NM	Coarse face	Coarse face	NM	Coarse face	Coarse face	Coarse face Bilateral severe hypoacusia	Coarse face Acute otitis media Mild deafness
	Cardio-respiratory	Recurrent respiratory infections Peripheral pulmonary stenosis Ventricular septal defect	NM	Recurrent respiratory infections Cardiac valve disease	Recurrent respiratory infections Cardiac valve disease	Breathing difficulty	Cardiac distress	Recurrent respiratory infections No cardiac disease	Respiratory distress recurrent infections	None
	Musculo-skeletal	Lumbar gibbus, bilateral femoral head hypoplasia Wheel-chair bound	Kyphosis and talipes equinovarus	NM	NM	NM	NM	Short trunk with pectus carinatum Scoliosis and kyphosis Talipes equinovarus Acetabular hip dysplasia Joint contractures and stiffness Genu valgum Clawed hands	Bilateral club-foot Pectus carinatum Gibbus Joint stiffness Dysostosis multiplex	Talipes equinovarus Kyphosis
	Thoraco-lumbar and abdominal	Hepatosplenomegaly Umbilical hernia	NM	NM	Hepato-splenomegaly	Hepatosplenomegaly	Hepatomegaly Inguinal hernia	Hepatomegaly Umbilical hernia	Hepatomegaly Bilateral inguinal hernias	Hepato-splenomegaly
	Neurological	Mental retardation (IQ: 50)	Normal intelligence	Mental retardation	Mental retardation	Mental retardation Development delay	NM	No alterations (IQ:100)	Axial hypotonia Hypertonia in limbs	Slight axial hypotonia
Age at transplantation (years)		12	2 and 4	7	NM	3	0.5	2 and 3.5	1.2	1.3
Evolution		Stabilization of symptoms Stop of recurrent infections Improved motor function (ability to walk short distances without assistance)	Moderate clinical manifestations Slow progression Persistent kyphosis and talipes equinovarus Normal intelligence	Deceased (from complications of the procedure)	Deceased (from complications of the procedure)	Moderate clinical phenotype Swallowing difficulties Recurrent respiratory infections Skeletal abnormalities Restrictive and obstructive airway disease	No clinical manifestations	Normal motor function Stabilization of musculoskeletal symptoms Improvement of coarse face and hepatomegaly Good respiratory function IQ: 109	Worsening respiratory disease Deceased at 25 months of age	Stabilized growth curve No hepatosplenomegaly Normal psychomotor development
Age at last follow-up (years)		14.5	NM			15	1.25	9		4

Abbreviation: NM, not mentioned.