Recognizable type of pituitary, heart, kidney and skeletal dysplasia mostly caused by SEMA3A mutation: A case report

Table 2 Summary of patients’ clinical presentations and comparison to the published patients

Ethnicity	Patient 1	Patient 2	Patient 3
	Asian	Turkish	Southern German
Mutation	c.950A>G (p.Lys317Arg) in exon 9, heterozygous	c.607C>T [p.(Arg203*)] in exon 6, homozygous	c.945_949delinsTACATCTTCTAATG; p.Phe316_Lys317-; delinsThrSerSerAsnGlu in exon 9, de novo, in-frame; 150-kb deletion, intron-8 retention, premature stop codon after 348; amino acids, compound-heterozygous
Gender	Male	Male	Male
Gestational age (wk)	40	41	37
Age at examination	26	8	6
Birth weight and length	Weight: unknown; Length: unknown	Weight: 3720 g (P50-P75; 0.19 SDS); Length: 50 cm (P10-25; -1.25 SDS)	Weight: 2910 g (P25-P50; -0.92 SDS); Length: 48 cm (P10-P25; -0.43 SDS)
Mother’s and father’s heights	156 cm, 155 cm	154 cm, 174 cm	159 cm, 174 cm
Short statue	+	+	+
Facial dysmorphism	Facial moles, transverse palm	Long face; epicanthic folds; mildly low-set, backwards; rotated ear; bilateral retrolobular notches; long philtrum	Long face; epicanthic folds; mildly low-set, backwards, rotated ear; dolichocephaly; prominent forehead; broad nasal root; rounded nasal tip; long philtrum; thin lips; high palate; crossbite with crowded teeth
Skeletal system	Short neck, knee valgus	High-positioned scapulae, lateral clavicle hook, restricted mobility of the shoulder joints, arched rib deformation, mild upper thoracic; scoliosis, widely spaced nipples, camptodactyly of the second and third fingers, flexion contracture of the right knee with patellar luxation	Sloping shoulders, broad and asymmetric thorax, flattened vertebrae in the upper thoracic region, mild funnel chest, kyphosis, hyperlordosis, widely spaced nipples, camptodactyly, of the third left finger,relatively large first toe
Cardiovascular	Aortic dysplasia with moderate reflux	Arteria lusoria	Patent foramen ovale, nearly closed with 6 yr
Urogenital	No prostate, bilateral seminal vesicles, testicular hypoplasia and cryptorchidism, micropenis	Micropenis	Micropenis
Hearing	Normal	Mild conductive hearing impairment	Susceptible to upper airway and middle ear infections until 2 yr of age
Olfaction	Normal	Normal	Normal
Vision	Normal	Myopia	Hyperopia
Motor development	Normal	Delayed, walking independently at 3.8 yr	Delayed, walking independently at 21 mo
Cognitive development	Normal	Reduced performance and verbal score with a full scale IQ of 55 (at 6 yr)	Average performance and full scale IQ, verbal IQ in the lower average; range (at 5 yr)
Kidney	Hypoplasia	Normal	Normal
Growth hormone	Lacking	Unknown	Unknown
Sex hormone	Lacking	Unknown	Unknown

IQ: Int