Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and [books.google.com]

Years Published 1992, 2004, 2017 The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional. [rarediseases.org]

PT occurred spontaneously or could be evoked by tactile stimulation of the patient’s left arm by a physician inside the scanning room. [ajnr.org]

Since the association of asthma with genetic malfor- mation syndromes is most unusual, the possibility of repeated aspirations in the presence of a cleft palate was initially con- sidered. [myslide.es]

Alpha- 1 -antitrypsin was within normal range, sweat chloride determinations were normal, and PPD tests were negative. [myslide.es]

[…] syndrome Cold-induced sweating syndrome-hyperthermia spectrum Combined cervical dystonia Combined dystonia Combined oxidative phosphorylation defect type 11 Complex hereditary spastic paraplegia Congenital achiasma Congenital brain dysgenesis due to [se-atlas.de]

Takahashi, Essential osteolysis associated with nephropathy, corneal opacity, and pulmonary stenosis. Am. J. Med. Genet. 41 (1991) 482–486. PubMed CrossRef Google Scholar Urlus, M., P. Roosen, J. Lammens, J. Victor, L. DeSmet, G. Molenaers and G. [link.springer.com]

[…] had mild microphthalmia, corneal opacities, coloboma of the iris, cataract, microphakia (abnormal smallness of the crystalline lens), congenital nystagmus, synechiae and abnormalities of the external ear. – Warburg Micro syndrome: caused by RAB3GAP1, [bredagenetics.com]

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]

Skeletal anomalies include pectus excavatum, joint hyperlaxity and kyphoscoliosis. Intellectual deficit (moderate to severe) is a constant feature and is associated with cerebral atrpohy or quadriplegia in some cases. [orpha.net]

[…] syndrome Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome Osteopetrosis and related disorders Osteopetrosis with renal tubular acidosis Osteopetrosis-hypogammaglobulinemia syndrome Osteoporosis-macrocephaly-blindness-joint hyperlaxity [se-atlas.de]

OMIM : 58 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]

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

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]

Wereport on the second case of this disorder.Our patient, a 2-year-old boy, had growthdelay, microcephaly, bilateral persistenthyperplastic primary vitreous with rightmicrophthalmia, long ears with thickenedhelices, small hands and feet, highly archedpalate [documents.tips]

Hands (SD) Small Feet (SD) Midline Cleft Palate Large pointed ears Undescended testes Microphthalmos Secondary changes C.N.S. [myslide.es]

head syndrome Cleft palate-short stature-vertebral anomalies syndrome Combined pituitary hormone deficiencies, genetic forms Congenital laryngeal web Czech dysplasia, metatarsal type Deafness-epiphyseal dysplasia-short stature syndrome Deficiency in [se-atlas.de]

Major characteristics in males with this disorder may be a small head, broad forehead, flat bridge of the nose, wide space between the eyes, small mouth, cleft palate, downward slant of the opening between the upper and lower eyelids, small mouth, small [rarediseases.org]

Note the slender neck and the sloping shoulders. 416 F R Y D M A N E T A L focal atrophy at the left temporal lobe and moderate ventricular dilatation. Flg. 2. Case V-7, 4 years old. [myslide.es]

OMIM : 58 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]

ears with thick helices. [ijn.mums.ac.ir]

Syndrome of cleft palate, microcephaly, large ears, and short stature (Say syndrome). Am. J. Med. Genet. 45 : 358-360. [ Links ] Ashton-Prolla, P. and Félix, T.M. (1997). [scielo.br]

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]

Peter's University Hospital, New Brunswick, New JerseyOculo-palato-cerebral syndrome is an extre-mely rare disorder consisting of low birthweight, microcephaly, short stature, persis-tent hyperplastic primary vitreous, micro-phthalmia, large ears, small [documents.tips]

impairment Niemann-Pick disease type A Niemann-Pick disease type C Niemann-Pick disease type C, adult neurologic onset Niemann-Pick disease type C, juvenile neurologic onset Niemann-Pick disease type C, late infantile neurologic onset Niemann-Pick disease [se-atlas.de]

[…] no identified gene yet): already detectable in utero, the syndrome can be characterized by anophthalmia/microphthalmia, congenital glaucoma, blepharophimosis, cleft lip/cleft palate and other lip and palatal anomalies, bifid uvula, choanal atresia, macrotia [bredagenetics.com]

Genetic counseling Familial reoccurrence and evidence of consanguinity in two of the three reported families are suggestive of autosomal recessive inheritance. [orpha.net]

The first patients described were offsprings of a consanguineous couple of Moroccan Jewish descent, suggesting autosomal recessive inheritance. An additional case was reported by Pellegrino et al. [2001: Am J Med Genet 99:200-203] in 2001. [ncbi.nlm.nih.gov]

[…] 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]

Anomalies of the external genitalia were reported in some of the male patients, with two of the boys displaying cryptorchidism. Skeletal anomalies include pectus excavatum, joint hyperlaxity and kyphoscoliosis. [orpha.net]

He died of pneumonia and autopsy finding included dystrophy, cachexia, microcephaly, micrencephaly due to cerebral gliosis, and abdominal cryptorchidism. No other anom- alies were described. Fig. 4. [dokumen.tips]

[…] et al. [1985: Clin Genet 27:414-419] described a syndrome characterized by growth failure, microcephaly, persistent hyperplastic primary vitreous (PHPV) with microphthalmia, cleft palate, connective tissue abnormality, mental retardation, and spastic quadriplegia [ncbi.nlm.nih.gov]

Intellectual deficit (moderate to severe) is a constant feature and is associated with cerebral atrpohy or quadriplegia in some cases. Hearing difficulties may also be present and a tendency for atopy is often noted. [orpha.net]

quadriplegia syndrome Congenital insensitivity to pain with hyperhidrosis Congenital intrauterine infection-like syndrome Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Congenital lethal myopathy, Compton-North type Congenital microcephaly-severe [se-atlas.de]

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 C.N.S. [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]

"Neurological manifestations of the oculodentodigital dysplasia syndrome". J. Neurol. 249 (5): 584–95. doi : 10.1007/s004150200068. PMID 12021949. Norton KK, Carey JC, Gutmann DH (1995). [en.wikipedia.org]

Considerable variability in clinical ex- pression was observed in this family, and no correlation between the severity of the neurological manifestations and the extent of the ocular involvement was present. [myslide.es]