Brachydactyly

07/23/2022 - "The mother only presented with brachydactyly and short stature, without hormone resistance and other signs of AHO. "
07/20/2023 - "Patients present with resistance to PTH and other hormones, subcutaneous ossifications, brachydactyly, short stature, and early-onset obesity. "
02/01/2008 - "Pseudohypoparathyroidism type Ia (PHP-Ia) is a hereditary disorder characterized by resistance to multiple hormones that work via cAMP such as PTH and TSH, accompanied by typical skeletal features including short stature and brachydactyly, termed Albright hereditary osteodystrophy (AHO). "
11/01/2014 - "Acrodysostosis without hormone resistance is a rare skeletal disorder characterized by brachydactyly, nasal hypoplasia, mental retardation and occasionally developmental delay. "
01/01/2009 - "This mutation was also found in the mother of this patient who was also noted to have short stature, obesity, brachydactyly and non progressive osteoma cutis, but no hormone resistance.We"

01/01/2020 - "Patients affected by pseudohypoparathyroidism (PHP) or related disorders are characterized by physical findings that may include brachydactyly, a short stature, a stocky build, early-onset obesity, ectopic ossifications, and neurodevelopmental deficits, as well as hormonal resistance most prominently to parathyroid hormone (PTH). "
04/01/2012 - "Pseudohypoparathyroidism (PHP) is a rare disorder characterized by parathyroid hormone (PTH) resistance with (type 1a) or without (type 1b) the Albright Hereditary Os-teodystrophy (AHO) phenotype of short stature, brachydactyly, and mental retardation. "
03/01/2010 - "Albright hereditary osteodystrophy (AHO) is a syndrome of short stature, obesity, brachydactyly and subcutaneous calcifications with pseudohypoparathyroidism (PHP; leading to hypocalcaemia, hyperphosphataemia and elevated levels of parathyroid hormone, PTH). "
01/01/2001 - "Pseudohypoparathyroidism Ia (PHP-Ia), is an inherited disease with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including short stature, obesity, round face, brachydactyly, and subcutaneous ossification. "
06/15/2015 - "In this study, we successfully identified a novel heterozygous mutation of the parathyroid hormone-like hormone (PTHLH) gene by exome sequencing in a Chinese pedigree with brachydactyly and short stature. "

11/01/2012 - "A misplaced lncRNA causes brachydactyly in humans."
01/01/2013 - "Previous studies have indicated that long non-coding RNAs (lncRNA) are related to the occurrence and development of many human diseases, such as cancer and the HELLP and the brachydactyly syndromes. "

12/01/2012 - "These studies have shown that the bone morphogenetic protein (BMP) pathway plays a pivotal role in the normal development of digits and joints and that the majority of brachydactyly disease genes are directly or indirectly linked to this pathway. "
12/10/2010 - "Altered Bone Morphogenetic Protein (BMP) signaling leads to multiple developmental defects, including brachydactyly and deafness. "

12/01/2016 - "In older children, moderate mental retardation, brachydactyly, afebrile seizures, short stature, and thyroid-stimulating hormone resistance are the most suggestive features."
05/22/2020 - "Biochemical and imaging findings were consistent with PHP-Ia, including typical Albright hereditary osteodystrophy phenotype (short stature, round face, brachydactyly, and mild mental retardation), PTH resistance (hypocalcemia, hyperphosphatemia, elevated serum PTH, and multiple intracranial calcification) and thyroid stimulating hormone resistance (elevated serum thyroid stimulating hormone). "
11/01/2000 - "One patient has mild brachydactyly but no endocrinopathy, whereas the other manifests brachydactyly, obesity, and target tissue resistance to thyrotropin and parathyroid hormone (PTH). "
10/18/2023 - "Many clinical features including obesity, neurocognitive impairment, brachydactyly, short stature, parathyroid hormone (PTH) resistance, and resistance to other hormones such as thyroid-stimulating hormone (TSH) have been well described, yet they refer mainly to the full development of the disease during late childhood and adulthood. "
01/01/2018 - "Although (epi)genotype-phenotype findings were grossly similar to those reported previously, several important findings were identified, including younger age at hypocalcemic symptoms and higher frequencies of hyperphosphatemia in subgroup C than in subgroup D, development of brachydactyly in four patients of subgroup C, predominant manifestation of subcutaneous ossification in subgroup B, higher frequency of thyrotropin resistance in group 1 than in group 2, and relatively low thyrotropin values in four patients with low T4 values and relatively low luteinizing hormone/follicle-stimulating hormone values in five adult females with ovarian dysfunction. "

12/15/2013 - "Targeted loss of the ATR-X syndrome protein in the limb mesenchyme of mice causes brachydactyly."
04/01/2006 - "Unlike mutations that lead to haploinsufficiency for GDF5 and produce brachydactyly C, the protein encoded by the multiple-synostosis-syndrome allele was secreted as a mature GDF5 dimer. "
04/06/2017 - "By whole-exome sequencing, recessive protein-truncating mutations in CWC27 were found in seven unrelated families that show a range of clinical phenotypes, including retinal degeneration, brachydactyly, craniofacial abnormalities, short stature, and neurological defects. "
11/01/2009 - "We here report a novel nonsense mutation in ROR2 (c.1324C>T; p.R441X) causing intracellular protein truncation in a patient exhibiting features of RRS in conjunction with severe recessive brachydactyly. "
01/01/2019 - "Our findings, in addition to identifying the genetic cause of brachydactyly in two unrelated kindreds, emphasize the role of pathogenic TRPS1 variants in the development of brachydactyly type E and highlight the GATA DNA-binding region of TRPS1 protein with respect to phenotype-genotype correlation."

06/01/2018 - "Herein, we report a family affected with brachydactyly type E2 caused by a novel PTHLH mutation, which was confused with PPHP with unclassical genetic penetrance."
06/01/1977 - "Brachydactyly E is indistinguishable radiologically from the PHP-PPHP syndrome."
11/01/2014 - "TRPS was mistakenly identified as PHP/PPHP because of the coexistence of obesity and brachydactyly, with PTH resistance in one of the cases. "
06/01/1977 - "The pattern of shortening of the bones of the hand in PHP and PPHP--A comparison with brachydactyly E, Turner Syndrome, and acrodysostosis."
07/01/1985 - "The differential diagnosis of young women with the PPHP phenotype is discussed with special reference to Ullrich-Turner syndrome, brachydactyly E, the "resistant ovary" syndrome, and acrodysostosis."

05/30/1997 - "In-frame expansion of a polyalanine stretch segregates in an affected family with brachydactyly and minor clinical findings of CCD. "
01/01/2021 - "Furthermore, a more severe degree and classic SPD were associated with polyalanine mutations although missense variants were associated with brachydactyly and syndactyly in hands and feet and LOF variants with clinodactyly in hands. "
02/01/2007 - "In the family with complex brachydactyly and syndactyly, we detected a deletion of 21 bp in the imperfect GCN (where N denotes A, C, G, or T) triplet-containing exon 1 of HOXD13, which results in a polyalanine contraction of seven residues. "
02/01/2007 - "Polyalanine expansions in HOXD13 cause synpolydactyly, whereas amino acid substitutions in the homeodomain are associated with brachydactyly types D and E. "
02/01/2007 - "Our data established the link between HOXD13 and two additional limb phenotypes--syndactyly type V and brachydactyly type A4--and demonstrated that a polyalanine contraction in HOXD13, most likely, led to other digital anomalies but not to synpolydactyly. "

11/15/2001 - "The second patient presented with short stature, characteristic facial features, brachydactyly, and delay of speech as well as mental development; she was successfully treated with growth hormone. "
06/01/2003 - "A 6 year-old female showed growth hormone deficiency, situs inversus totalis, short stature, blue sclerae, facial dismorphism, brachydactyly, developmental delay and hypertrichosis. "
06/01/2003 - "Growth hormone deficiency, situs inversus, hypertrichosis and brachydactyly."
02/20/2017 - "Her paraclinical tests were characteristic with elevated P-parathyroid hormone concentration, hypothyroidism, growth hormone deficiency, abnormal phenotype with brachydactyly, tooth problems and mental retardation, which led to a suspicion of Albright's hereditary osteodystrophy (AHO). "

11/01/2007 - "Albright"s hereditary osteodystrophy (AHO) is a complex genetic disorder characterized by brachydactyly, gonadotropin resistance, hypothyroidism, pseudohypoparathyroid syndrome and heterotopic ossification. "
10/01/2001 - "Albright's hereditary osteodystrophy (AHO) is characterized by phenotypic signs that typically include brachydactyly and sc calcifications occurring with or without hormone resistance toward PTH or other hormones such as thyroid hormone or gonadotropins. "
01/01/2011 - "A patient with typical clinical manifestations of pseudohypoparathyroidism (PHP) (round face, short stature, centripetal obesity, brachydactyly, and multi-hormone resistance: parathyroid hormone (PTH), thyroid-stimulating hormone (TSH), and gonadotropins) presented at our center. "

01/01/2021 - "The operation involved polydactyly excision, syndactyly release using an improved dorsal asymmetric gullwing flap for web space reconstruction without skin grafting, and simultaneous correction of valgus deformity and brachydactyly of the toes. "

01/01/2002 - "We experienced one Japanese case of CCD with open sutures, hypoplasia of clavicles and brachydactyly, combined with atlant-axis dislocation. "
10/01/2022 - "Here we describe a 4-year-old male CED patient whose features include dolichocephaly, multi-suture craniosynostosis, epicanthus, frontal bossing, narrow thorax, limb shortening, and brachydactyly. "
10/01/2021 - "The patient presents with striking clinical (short stature, brachydactyly) and radiological (frontal and parieto-occipital bossing, open sutures, and fontanelles, acro-osteolysis of terminal phalanges) features making the diagnosis clinico-radiographic. "
10/31/1997 - "We report on an 18-month-old girl with multiple congenital anomalies (prominence of the metopic suture, fine hair, club foot, absence of the 12th rib, brachydactyly) and severe mental retardation. "
03/01/1990 - "Findings in common include early speech delay, short stature, frontal bossing with a depression over the metopic suture, a narrow nasal root with beaked nose, midfacial hypoplasia with relatively prominent eyes, and brachydactyly with blunt fingers. "

01/01/2020 - "Here we report a novel pathogenic variant in ADAMTS17 that causes WMS 4 in an individual with short stature, brachydactyly, and small, spherical, and dislocated lenses. "
05/16/2023 - "WMS is characterized by the association of short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia and ectopia of the lenses, and, occasionally, heart defects. "
11/01/2004 - "Weill-Marchesani syndrome (WMS) is characterized by the association of short stature; brachydactyly; joint stiffness; eye anomalies, including microspherophakia and ectopia of the lenses; and, occasionally, heart defects. "
12/01/2000 - "We report an inbred family where 3 siblings had short stature, brachydactyly, limitation of joint movements, microspherophakia, luxated lenses, glaucoma, and heart malformations. "
07/01/2019 - "Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, glaucoma and occasionally heart defects. "

12/01/2007 - "We now believe that it was not appropriate to do a closing wedge osteotomy for all cases of sporadic clinodactyly of the index finger, and we have designed a new approach of management based on 3 factors: the severity of angulation, the age of the patient, and the relative degree of brachydactyly of the index finger compared with the adjacent middle finger."
04/01/2021 - "Shortening Scarf Osteotomy for Macrodactyly and Valgus of the Hallux in Acrodysostosis Lesser Toes Brachydactyly."
11/01/2015 - "Seven patients (14 extremities) followed up with Apert syndrome underwent distraction after a C-shaped osteotomy to simultaneously correct the brachydactyly and the angulation deformity of the bilateral thumbs. "

01/01/1989 - "The br/br rabbit has a transient disturbance in fetal megakaryocytopoiesis and brachydactyly due to spontaneous amputation. "
01/01/1984 - "Brachydactylia in the rabbit results from in utero haemorrhages leading to necrosis and post-natal amputations. "
04/01/1995 - "The infarcted blood vessels could be the result of thrombosis of the digital arteries in the fetus due to a hemoglobinopathy such as hemoglobin Bart's, just as rabbit fetuses homozygous for brachydactyly have transverse terminal digit amputations following digital vessel occlusions due to macrocytic anemia. "