In the second family, the affected male had craniosynostosis, radial ray defect, poikiloderma, and short stature. He had a homozygous splice site mutation (IVS17-2A C). [ncbi.nlm.nih.gov]

Abstract : We report a male patient with craniosysnostosis, bilateral radial and ulnar hypoplasia, absent thumbs, poikiloderma, and short stature. His parents are first cousins. [hal.archives-ouvertes.fr]

Definition An autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals, metacarpals and phalanges. Some patients manifest poikiloderma. [uniprot.org]

She died at 2 months of age because of overwhelming sepsis that appeared to be due to an underlying humoral immunodeficiency. [ncbi.nlm.nih.gov]

RTS is characterised by poikiloderma congenita (usually first manifested between 4 and 6 months of age), alopecia, skeletal defects, dystrophic nails, abnormal teeth, cataracts, and small stature. Photosensitivity is highly variable. [ncbi.nlm.nih.gov]

80%-99% of people have these symptoms Aplasia/Hypoplasia of the radius 0006501 Aplasia/Hypoplasia of the thumb Absent/small thumb Absent/underdeveloped thumb [ more ] 0009601 Brachyturricephaly High, prominent forehead 0000244 Failure to thrive in infancy [rarediseases.info.nih.gov]

In addition to phenotypic variability, additional features presented in BGS include failure to thrive, developmental delay, and systemic anomalies such as congenital heart disease (ventricular septal defect and patent ductus arteriosus), renal agenesis [neo-med.org]

At an older age (patient 4 at 3 and 6 years), dysmorphia is less pronounced but failure to thrive is obvious. [ncbi.nlm.nih.gov]

Failure to thrive and neurological disorders are criteria for diagnosis, while photosensitivity, hearing loss, eye abnormalities, and cavities are other very common features. Problems with any or all of the internal organs are possible. [howlingpixel.com]

Ling TT, Sorrentino S: Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability. Am J Med Genet A 2016;170A:217–219. [karger.com]

RTS is characterised by poikiloderma congenita (usually first manifested between 4 and 6 months of age), alopecia, skeletal defects, dystrophic nails, abnormal teeth, cataracts, and small stature. Photosensitivity is highly variable. [ncbi.nlm.nih.gov]

The observation of associated postaxial polydactyly, blue sclera, rotatory nystagmus, other skeletal and orodental anomalies broadened the spectrum of phenotypic variability. [ncbi.nlm.nih.gov]

Some individuals have nystagmus while strabismus, blue sclerae, and ectropion have also been reported. Systemic Features: The cardinal features of this syndrome are craniosynostosis and radial defects. [disorders.eyes.arizona.edu]

He had a typical face with low hairline, small eyes, a prominent nasal bridge and prominent ears. Microcephaly (head circumference 29 cm) was noticed at birth. The calvarium was of normal shape and fontanels were closed in the normal way. [ijps.org]

This rash spreads over time, causing patchy changes in skin coloring, areas of thinning skin (atrophy), and small clusters of blood vessels just under the skin (telangiectases). These chronic skin problems are collectively known as poikiloderma. [ghr.nlm.nih.gov]

In these two subsets, cutaneous manifestations are found only in Fanconi anaemia patients in the form of pigmentary changes. [ncbi.nlm.nih.gov]

In addition to craniosynostosis and radial deficiency, our studied cases had absent or hypoplastic thumbs, postaxial polydactyly in the left foot, genital anomalies and orodental manifestations. [ncbi.nlm.nih.gov]

In BGS patients with absent or hypoplastic thumbs, pollicization of the index finger is an appropriate method to restore functional grasp; however, many patients with aplastic or hypoplastic thumbs can grasp objects without orthopedic surgery [15]. [neo-med.org]

Twin B had right radioulnar and ipsilateral first metacarpal hypoplasia. Both had bilateral fifth finger clinodactyly. Assuming that the twins were truly monozygotic, a single genetic disorder (i.e., BGS) could explain the variable expression. [ncbi.nlm.nih.gov]

limitation, rib fusion, flat vertebrae and absent middle phalanx). [ijps.org]

posteriorly rotated ears 0000368 Midface capillary hemangioma 0007452 Myopia Close sighted Near sighted Near sightedness Nearsightedness [ more ] 0000545 Optic atrophy 0000648 Patellar hypoplasia Small kneecap Underdeveloped kneecap [ more ] 0003065 [rarediseases.info.nih.gov]

Low set posteriorly rotated ears (64%). Micrognathia (50%). Microstomia (32%). Limbs. Radial aplasia/hypoplasia (77%). Ulna, short and curved (68%). Missing carpals, metacarpals and phalanges and fused carpals. Thumbs, absent or hypoplastic (100%). [fetalultrasound.com]

Microcephaly, erythroblastosis of the liver, and pancreatic islet cell hypertrophy were also noted. [ncbi.nlm.nih.gov]