Monosomy 9p

Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.

Micrognathia

Developmental hypoplasia of the mandible.

Total: 1

(per page)

PMID (PMCID)
2080420	FEMALE	Adult
	A 22-year old female with the 9p deletion syndrome.
	Ioan D, Dumitriu L, Ghergar D, Pop T, Ioanitiu D, Belengeanu V, Maximilian C. Endocrinologie. 1990;28(1):37-9.
	A 22-year old female patient with psycho-motor retardation, statural hypotrophy and clinical picture characteristic of the 9p deletion syndrome, i.e., trigonocephalia (corrected surgically), epicanthus, hypertelorism, long filtrum, micrognathia, low inserted and malformed ears, filiform fingers, is presented.