Table 2

Clinical differences between classical HGPS, the reported HGPS kindred, and LMNA mutation positive MAD patients

	Classical HGPS²	Reported HGPS kindred	MAD^11,²⁵
LMNA germline mutation	–	K542N/K542N	R527H/R527H
Age of onset	1	1–2	3–5
Age of death	12–15	10 and 16	>30
Alopecia	Present	Present	Mostly absent
Eyebrows and eyelashes	Absent	Absent	Present
Skin atrophy	Present	Present	Absent²⁵
Generalised lipodystrophy	Present	Present	Mostly extremities
Open fontanelles	Present	Present	Absent²⁵
Premature loss of teeth	Absent	Absent	Present
Sexual maturation	Absent/impaired	Absent/impaired	Present