Case Reports in Genetics

Case Report

Idiopathic Central Precocious Puberty Associated with 11 Mb De Novo Distal Deletion of the Chromosome 9 Short Arm

Table 1

Clinical features of 9p-syndrome, as described in OMIM web site [11], compared to the clinical features presented by our patient affected of 9p-syndrome due to 9p24.3-p23 deletion.


Category	Features	Present case

Head	Trigonocephaly	No

Face	Midface hypoplasia	No
	Long philtrum	Yes
	Micrognathia	No

Ears	Low-set ears	Yes
	Malformed ears	No
	Posteriorly angulated ears	Yes

Eyes	Upslanting palpebral fissures	Yes
	Hypertelorism	Yes
	Epicanthal folds	Yes
	Small palpebral fissures	Yes
	Myopia	No
	High-arched eyebrows	Yes

Nose	Flat nasal bridge	Yes
	Anteverted nares	No
	Choanal atresia	No

Mouth	Thin upper lip	Yes
	Microstomia	No
	High narrow palate	Yes

Neck	Short neck	No

Heart	Heart murmurs	Yes
	Congenital cardiac malformations	No
	Atrial septal defect	No
	Ventricular septal defect	No
	Patent ductus arteriosus	No

Breasts	Widely spaced nipples	No

Abdomen	Inguinal hernia	Yes
Abdomen	Omphalocele	No

Skeletal	Scoliosis	No
	Tapering fingers	No
	Pes planus	No

Skin, nails, and hair	Pale skin	Yes
	Hyperconvex nails	No
	High arched eyebrows	No

CNS	Mental retardation	Yes
	Delayed psychomotor development	Yes
	Speech delay	Yes
	Hypotonia	Yes

		Central precocious puberty

		Short metacarpal
		Short metatarsal

		Wide mouth
		Dental crowding
		Geographic tongue

		Ungueal decalcification

		Low anterior hairline
		Synophrys