Table 1.

Clinical and radiological features of the present case compared to some cases from literature (modified from Al-Gazali et al⁴).

	Wollcot and Rallison1			Goumy et al2		Al-Gazali et al4		bin-Abbas et al12		Present case
	1	2	3	1	2	1	2	1	2
Sex	M	F	M	F	M	M	M	F	M	M
Consanguinity						+	+	+	+	+
Clinical features
Onset of diabetes	6w	8w	6w	4w	3w	8w	2w	2m	2m	2m
Microcephaly/ developmental delay/ Mental Retardation		+	+	+		+		+	+	+
Seizures		+				+
Renal insufficiency		+						+	+	+
Hepatitis/ Hepatic fibrosis/ encephalopathy	+							+	+	+
Cardiac murmer	+					+	+
Skin pigmentation		+				+	+			+
Teeth discolouration	+	+								+
Upward slanting palpebral fissures						+	+
Depressed nasal bridge						+	+	+		+
High arched palate							+	+		+
Short neck										+
Short stature								+		+
Hypothyroidism								+	+	+
Radiology
Osteoporosis	+			+		+				+
Irregular/fragmented epiphyses	+	+	+	+	+	+	+	+	+	+
Platyspondyly	+			+		+				+
Narrow or abnormal iliac wings				+		+				+
Small femoral epiphyses or laterally displaced	+	+	+			+				+
Small and irregular carpal bones		+	+	+		+				+
Cone-shaped epiphyses of fingers						+				+
Small irregular tarsal bones						+				+
Hypoplastic middle and distal phalanges of the toes						+				+

M: male, F: female, w: week, m: month.