In some instances, additional physical abnormalities may also be present, such as other skeletal defects and/or structural malformations of the heart that are present at birth (congenital heart defects). [rarediseases.org]

Abstract Six cases of translocation trisomy for the distal half of the short arm of a number 9 chromosome and four asymptomatic balanced translocation carriers are presented in a three-generation pedigree. [ncbi.nlm.nih.gov]

Strabismus and hypertelorism were present. However, the other ocular features, blepharophimosis, correctopia, ptosis, microphthalmia, iris coloboma, unusual position of the eyelashes were not observed. © 1985 S. [karger.com]

All in all, a detailed risk estimation cannot be given in the present case, but a prenatal diagnosis should be performed in further pregnancies of II.2, as well as of his brother. [jmg.bmj.com]

• Short Stature

  In addition to non-specific mental retardation and short stature, there is, in common, a characteristic facies, including down-turned corners of the mouth, a slightly bulbous nose, moderately large ears, suggestively wide-set eyes with an antimongoloid [ncbi.nlm.nih.gov]

  Characteristic clinical features of partial trisomy 9p are mental retardation of various degree, short stature, craniofacial abnormalities, short fingers, simian crease, and single crease of the fifth finger. [jmg.bmj.com]

  Affected children may be below average height for their age (short stature). [rarediseases.org]

• Short Finger

  Characteristic clinical features of partial trisomy 9p are mental retardation of various degree, short stature, craniofacial abnormalities, short fingers, simian crease, and single crease of the fifth finger. [jmg.bmj.com]

  These may include decreased length of specific bones of the fingers and toes (phalanges) and within the hands (metacarpals) and feet (metatarsals); short fingers and toes (digits) with small nails; and/or the pinkies may be fixed or ‘locked’ in a bent [rarediseases.org]

• Swelling

  This leads to abnormally high pressure within the skull and swelling of the head, and can result in neurological impairment. [rarediseases.org]

• Failure to Thrive

  Hypotonia can affect infants, most often related to difficulty feeding, resulting in the failure to gain weight and grow at the expected rate (failure to thrive). In general, growth deficiency primarily begins after birth (postnatally). [rarediseases.org]

• Heart Disease

  Atkins Medicine Journal of medical genetics 1973 Clinical findings included microcephaly, low-set malformed ears, small palpebral fissures, enophthalmos, bulbous nose, micrognathia, low hairline, congenital heart disease, skeletal abnormalities, small [semanticscholar.org]

  It is characterized by delayed mental and psychomotor growth, craniofacial dysmorphisms, skeletal alterations, central nervous system abnormalities, congenital heart disease, and, to a lesser extent, kidney disorders. [pubmed.ncbi.nlm.nih.gov]

  In severe cases, congenital heart disease may lead to potentially life-threatening complications. Surgery may be necessary to remedy heart defects along with follow-up care and monitoring. [rarediseases.org]

• Low Set Ears

  The patient showed facial dysmorphisms typical of trisomy 9p syndrome, such as brachycephaly, hypertelorism, down-slanting palpebral fissures, broad prominent nose, and large low-set ears. [ncbi.nlm.nih.gov]

• Strabismus

  Strabismus and hypertelorism were present. However, the other ocular features, blepharophimosis, correctopia, ptosis, microphthalmia, iris coloboma, unusual position of the eyelashes were not observed. © 1985 S. [karger.com]

  […] be present, such as deeply set, widely spaced eyes; downwardly slanting eyelid folds (palpebral fissures); vertical skin folds that may cover the eyes’ inner corners (epicanthal folds); and/or abnormal deviation of one eye in relation to the other (strabismus [rarediseases.org]

  2.6 SDS) - Table 2 Comparison of our patients’ phenotypes with those reported in the literature Phenotype Literature (%) Case 1 Case 2 Case 3 Case 4 Downturned oral commissures 95% + + + + Bulbous nose 95% + + + + Malformed/low-set ears 70-80% + + + + Strabismus [ncbi.nlm.nih.gov]

• Enophthalmos

  Atkins Medicine Journal of medical genetics 1973 Clinical findings included microcephaly, low-set malformed ears, small palpebral fissures, enophthalmos, bulbous nose, micrognathia, low hairline, congenital heart disease, skeletal abnormalities, small [semanticscholar.org]

  […] commissures 95% + + + + Bulbous nose 95% + + + + Malformed/low-set ears 70-80% + + + + Strabismus 70-80% + - Short philtrum 70-80% + + + + Hypertelorism 70-80% + + + - Microcephaly 70-75% - - + - Brachycephaly 70-75% + + + - Cleft lip/palate 5% - - - - Enophthalmos [ncbi.nlm.nih.gov]

• Short Arm

  The missing segment is inserted in the short arm of the der(5). [jmg.bmj.com]

  The observed phenotypic findings illustrate the deficiencies associated with a complete duplication of the short arm of chromosome 9 and can aid in the genetic counseling of this particular chromosomal anomaly. [pesquisa.bvsalud.org]

  Trisomy for the short arm of 9. Clin. Genet., 7: 261–273.CrossRefGoogle ScholarPubMed Canki, N., Rethoré, M.O., Ferrand, J., Lejeune, J. 1973. Trisomie 9p par t(9p;14q) de novo. [cambridge.org]

  The clinical features are remarkably similar to those recently recognized and increasingly reported in full short arm (9p) trisomy and should be considered a modification of the same syndrome. [ncbi.nlm.nih.gov]

  In trisomy 9p, the trisomy (or duplicated material) may involve a portion of the short arm (9p), the entire short arm, or the short arm and a portion of the long arm (9q) of chromosome 9. [rarediseases.org]

• Brachydactyly

  70% + - - - Ogival palate 60-70% ND + + - Down-slanting palpebral fissures 60-70% + + + + Growth retardation 99% + + + + Delayed skeletal maturation 99% + + + + Delayed puberty 70-90% - + + ND Low birthweight 50-70% + + - - Clinodactyly 90% + + + + Brachydactyly [ncbi.nlm.nih.gov]

• Hip Dislocation

  Less commonly, partial webbing (syndactyly) of certain fingers and toes and dislocation of the hips at birth have been noted. [rarediseases.org]

• Bulbous Nose

  Atkins Medicine Journal of medical genetics 1973 Clinical findings included microcephaly, low-set malformed ears, small palpebral fissures, enophthalmos, bulbous nose, micrognathia, low hairline, congenital heart disease, skeletal abnormalities, small [semanticscholar.org]

  In addition to non-specific mental retardation and short stature, there is, in common, a characteristic facies, including down-turned corners of the mouth, a slightly bulbous nose, moderately large ears, suggestively wide-set eyes with an antimongoloid [ncbi.nlm.nih.gov]

  Most individuals with this condition present with a short and broad head (brachycephaly); a wide mouth with downturned corners; a prominent, relatively bulbous nose; large, low-set, “cup-shaped” ears; and/or a short vertical groove in the center of the [rarediseases.org]

• Hypertelorism

  Strabismus and hypertelorism were present. However, the other ocular features, blepharophimosis, correctopia, ptosis, microphthalmia, iris coloboma, unusual position of the eyelashes were not observed. © 1985 S. [karger.com]

  The patient showed facial dysmorphisms typical of trisomy 9p syndrome, such as brachycephaly, hypertelorism, down-slanting palpebral fissures, broad prominent nose, and large low-set ears. [ncbi.nlm.nih.gov]

  Moderate microcephaliy, enophthalmus, antimongoloid slant of palpebral fissures, mild hypertelorism, protruding ears, globulous nose, downward slanting mouth hypoplasia of phalanges. A Peculiarity in the Dermal Ridge System. [link.springer.com]

• Large Anterior Fontanels

  Patients with 9p trisomy exhibit mental retardation and characteristic head and facial abnormalities, such as microcephaly with large anterior fontanel and micrognathia, malformed protruding ears, hypertelorism, deep set eyes, and down slanting palpebral [ncbi.nlm.nih.gov]

Clinical Testing and Workup There are different tests that can be performed on sample tissue for chromosomal analysis. [rarediseases.org]

A worsening of scoliosis in response to GH treatment was especially apparent in patient 2; however, this patient was not required the stop GH treatment. [ncbi.nlm.nih.gov]

Additional treatment for this disorder is symptomatic. For example, for congenital heart defects, treatment with medication, surgical intervention (palliative and/or corrective), and/or other measures may be required. [rarediseases.org]

Keywords: diagnosis; genetic counseling; treatment; trisomy 9p. Sociedad Argentina de Pediatría. Conflict of interest statement The authors report no conflicts of interest in this work. [pubmed.ncbi.nlm.nih.gov]

So, GH treatment could also be considered to ameliorate the stature prognosis in patients with trisomy 9p and borderline values for the GH dynamic tests. [ncbi.nlm.nih.gov]

Physiology, Pathophysiology, and Clinical Aspects. Bertrand J, Rappaport R, Sizonenko PC, editor. Baltimore: Williams & Wilkins; 1993. Disorders of growth and prolactin secretion; p. 220. [ncbi.nlm.nih.gov]