Their short stature was associated with severe osteopenia, mild growth hormone deficiency (levels -2.2 to 43 SDS), but appropriate bone age and normal calcium, phosphate, alkaline phosphatase serum levels (Figure 1 ). [ojrd.biomedcentral.com]

Mégarbané A, Choueiri R, Bleik J, Mezzina M, Caillaud C: Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new [springermedizin.de]

Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome? J Med Genet 1999; 36: 637-640. [termedia.pl]

Mégarbané A, Choueiri R, Bleik J, Mezzina M, Caillaud C : Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a [doi.org]

Here, we report a novel homozygous RAB3GAP2 small in-frame deletion, c.499_507delTTCTACACT (p.Phe167_Thr169del) that causes Warburg Micro syndrome in a girl from a consanguineous Turkish family presenting with congenital cataracts, microphthalmia, absent [ncbi.nlm.nih.gov]

The parents in the Turkish and Palestinian families are reported to be consanguineous; however, the parents of the other two families are not closely related. [doi.org]

Pediatricians, pediatric neurologists, eye specialists (ophthalmologists), clinical geneticists, speech pathologists, physical therapists, psychologists, and other healthcare professionals may need to systematically and comprehensively plan an affected [rarediseases.org]

He showed failure to thrive with oral/pharyngeal dysphagia and required PEG feeding. He has cryptoorchidism and a micropenis, is severely mentally retarded, he does not visually track, and at age 3 years 7 months is unable to sit unsupported. [doi.org]

He showed failure to thrive with oral/pharyngeal dysphagia and required PEG feeding. He has cryptoorchidism and a micropenis, is severely mentally retarded, he does not visually track, and at age 3 years 7 months is unable to sit unsupported. [doi.org]

[…] to thrive 0001508 Growth hormone deficiency 0000824 NR NR NR Head and neck Postnatal microcephaly 0000252 ( ) Micrognathia 0000347 - - - Large ears 0000400 - - - Microphthalmia 0000568 Microcornea 0000482 Congenital cataract 0000519 Ptosis 0000508 - [ojrd.biomedcentral.com]

COFS is characterized by blepharophimosis, camptodactyly, arthrogryposis, generalized osteoporosis, dysplastic acetabula, coxa valga, and vertical talus manifesting as rocker bottom feet.[ 11 ] As these children did not have arthrogryposis, this was unlikely [ncbi.nlm.nih.gov]

COFS is characterized by blepharophimosis, camptodactyly, arthrogryposis, generalized osteoporosis, dysplastic acetabula, coxa valga, and vertical talus manifesting as rocker bottom feet. [11] As these children did not have arthrogryposis, this was unlikely [pediatricneurosciences.com]

This includes abnormally small eyes (microphthalmia) and abnormally small corneas. The corneas are the clear (transparent) outer layer of the eyes. Some infants have clouding of the lenses of the eyes at birth (congenital cataracts). [rarediseases.org]

Consistent facial features appear to be low-set ears (apparent in a, d/e ) a wide nasal bridge, which may be because of the patients’ small eyes ( a, c, d / e ), anteverted nares of variable severity ( c, g ), and a relatively narrow mouth with thin lips [doi.org]

Microcephaly, constricted pupils, excessive lacrimation, and microphallus were evident at 2.5 months. Postnatal testings, including TORCH serology, karyotyping, and analysis of the 607 BAC array, were normal. [doi.org]

The optic nerve is the main nerve of the eyes that carries impulses from the eyes to the brain to form images. [rarediseases.org]

Consistent facial features appear to be low-set ears (apparent in a, d/e ) a wide nasal bridge, which may be because of the patients’ small eyes ( a, c, d / e ), anteverted nares of variable severity ( c, g ), and a relatively narrow mouth with thin lips [doi.org]

Microcephaly, constricted pupils, excessive lacrimation, and microphallus were evident at 2.5 months. Postnatal testings, including TORCH serology, karyotyping, and analysis of the 607 BAC array, were normal. [doi.org]

0000939 NR NR NR NR Kyphoscoliosis 0002751 NR Joint hypermobility 0001382 - - ( ) - - - Joint contractures 0002803 - Foot deformities 0001760 - - - Hair Facial hypertrichosis 0002219 - - - Neurologic Intellectual deficit 0001249 Optic atrophy 0000658 - Hyperreflexia [ojrd.biomedcentral.com]

The pupil normally opens wider (dilates) in dim light or darkness, when focusing on far away objects, or when a person is excited. Affected children have intellectual disability that is often severe. [rarediseases.org]