Microcephaly is present in all patients (between -2 and -5.6 SD). Persistent hyperplastic primary vitreous (uni- or bilateral) was present in all cases reported so far and may be associated with microphthalmia, cataract or optic atrophy. [orpha.net]

The spinal fluid of the latter case showed normal protein, chloride, and glu- cose levels and no cells were present. [myslide.es]

• Pleural Effusion

  Pleural effusions in the neonate. Curr Opin Pulm Med. 2007; 13(4):305-11. 3. Bellini C, Ergaz Z, Boccardo F, Bellini T, Campisi CC, Bonioli E, et al. [ijn.mums.ac.ir]

• Band-Shaped Keratopathy

  Secondary glaucoma of the affected eyes developed in case V-3 followed by cataracts, uveitis, leukoma adherens, and band shaped keratopathy and eventually the right eye progressed to absolute glaucoma and the left eye progressed to bulbar atrophy. [myslide.es]

• Small Hand

  OMIM® : 57 Oculopalatocerebral syndrome is a rare disorder characterized by low birth weight, microcephaly, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay [malacards.org]

  Oculo-palato-cerebral syndrome is an extremely rare disorder consisting of low birth weight, microcephaly, short stature, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental [ncbi.nlm.nih.gov]

  Abstract Oculo-palato-cerebral syndrome is an extremely rare disorder consisting of low birth weight, microcephaly, short stature, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility [pubmed.ncbi.nlm.nih.gov]

  hands and feet, joint laxity, and large ears with thick helices. [ijn.mums.ac.ir]

• Sloping Shoulders

  The neck was long and thin, the shoulders sloping, and a pectus excavatum deformity was present. Moderate dorsal kyphosis with thoracolum- bar scoliosis were observed. [myslide.es]

• Hearing Impairment

  […] anomalies syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotrichosis-intellectual disability, Lopes type Hypoxanthine guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency [se-atlas.de]

• Bulbous Nose

  […] years 4 years 10 monthsPregnancy history HTN HTN HTN OligohydramniosBirth weight 2.0 SD 2.0 SD 2.0 SD 2.25 SDExamHead circumference 2.8 SD 5.2 SD 5.5 SD 4.2 SDHeight 2.5 SD 4.0 SD 3.2 SD 3.75 SDPHPV Bilateral Left Left Right/aborted leftFull cheeks Bulbous [documents.tips]

• Neonatal Hypotonia

  (SD) Neonatal hypotonia Oxygen therapy Features: Typical face (Figs. 2, 3) Short Stature (SD) Upperllower segment ratio (SD) Small Hands (SD) Small Feet (SD) Midline Cleft Palate Large pointed ears Undescended testes Microphthalmos Secondary changes [myslide.es]

  hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion Severe neonatal-onset encephalopathy with microcephaly Severe neurodegenerative syndrome with lipodystrophy Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome [se-atlas.de]

• Pleural Effusion

  Pleural effusions in the neonate. Curr Opin Pulm Med. 2007; 13(4):305-11. 3. Bellini C, Ergaz Z, Boccardo F, Bellini T, Campisi CC, Bonioli E, et al. [ijn.mums.ac.ir]

Management and treatment Treatment should include surgical correction of the palate anomalies and management of the visual problems. Physical and speech therapy should also be recommended. [orpha.net]

Somatostatin or octreotide as treatment options for chylothorax in young children: a systematic review. Intensive Care Med. 2006; 32(5):650-7. 24. Das A, Shah PS. Octreotide for treatment of chylothorax in newborns. [ijn.mums.ac.ir]

Prognosis Although no data are available on the long-term prognosis, the nature of the anomalies suggests that life expectancy for these patients is normal. The documents contained in this web site are presented for information purposes only. [orpha.net]

Etiology So far, neither a causative gene nor locus has been identified. [orpha.net]

Common etiologies of neonatal pleural effusion. Pediatr Neonatol. 2011; 52(5):251-5. 11. Caserio S, Gallego C, Martin P, Moral MT, Pallás CR, Galindo A. Congenita chylothorax: from foetal life to adolescence. Acta Paediatr. 2010; 99(10):1571-7. 12. [ijn.mums.ac.ir]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

Summary Epidemiology It has been described in five patients (three boys and two girls). Clinical description Maternal hypertension, oligoamnios and intrauterine growth retardation (IUGR) are often noted during pregnancy. [orpha.net]

Acquired pendular nystagmus: its characteristics, localising value and pathophysiology. J Neurol Neurosurg Psychiatry 1974; 37 :570–7. 4. Gautier JC, Blackwood W. [nature.com]

With treatment, doctors often can prevent loss of vision. [familydiagnosis.com]

Centers for Disease Control and Prevention Intersex [ Read More ] [icdlist.com]

The specific insults that prevent regression of the primary vitreous remain unknown. [medtextfree.wordpress.com]

Arrayit Corporation ( ARYC ) leads and empowers the genetic, research, pharmaceutical, and diagnostic communities through the discovery, development and manufacture of proprietary life science technologies and consumables for disease prevention, treatment [arrayit.com]