Table 1

Clinical, radiographic, and morphological features of seven patients with a lethal type II collagen disorder

	Patient
	R82-121	R83-32	R85-109	R86-6	R86-153	R87-75	R91-68
COL2A1mutation	T1191N?	Gly571Ala	Gly910Cys	Gly313Ser	Gly943Ser	Gly517Val	IVS35+4delAGTG
Clinical
Sex	Male	Female	Male	Female	Female	Female	Female
Birth length (gestational age)	39 cm (36 wk)	39 cm (40 wk)	? (37 wk)	? (34 wk)	29 cm (35 wk)	38 cm (42 wk)	34 cm (38 wk)
Short limbs	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Small thorax	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Cleft palate	No	No	No	Yes	Yes	No	No
Respiratory insufficiency at birth	No	Yes	Yes	Yes	Yes	Yes	Yes
Age at death	1 y 1 mth	63 d	1 d	10 h	6 h	2 d	4 d
Radiographic
Long bones^1-a	++^* hands and feet	+++^*	++^*	+++^*	++++^*	++++^*	+^†
Pelvis^b	?	Yes	Yes	Yes	Yes	Yes	No
Spine^c	Cervical	Cervical	Cervical, sacral	Cervical	Entire spine	Cervical, sacral	Only platyspondyly
Thorax^d	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Pubic bones^e	?	No	No	No	No	No	No
Talus and calcaneus^f	Yes	No	Only talus	No	No	?	Only talus
Morphological
Resting cartilage	Mild hypervascular	?	Very hypervascular	Mild hypervascular	Very hypervascular	Very hypervascular	Slightly increased vascular canals
Chondrocytes	LM	Inclusion bodies		Inclusion bodies		Inclusion bodies, dilated RER^‡		Inclusion bodies, dilated RER^‡	Inclusion bodies	Inclusion bodies, dilated RER^‡	Inclusion bodies, dilated RER^‡
Chondrocytes	EM	Inclusion bodies		Inclusion bodies		Inclusion bodies, dilated RER^‡		Inclusion bodies, dilated RER^‡	Inclusion bodies	Inclusion bodies, dilated RER^‡	Inclusion bodies, dilated RER^‡
Growth plate	Abnormal	Abnormal	?	Abnormal	Abnormal	Abnormal	Abnormal

↵1-a Degree of shortening of the long tubular bones with^* or without^† metaphyseal cupping. ^bPresence of flared iliac wings. ^cPlatyspondyly with level of incomplete ossification of vertebral bodies. ^dSmall thorax with short ribs. ^eOssification of pubic bones.^fOssification of talus and calcaneus. All radiographs were taken in the neonatal period except for patient R82-121 where the radiographs were taken at 1 month of age. ^‡Electron micrographs show dilated rough endoplasmic reticulum containing granular material.