Pressure Injury Prevalence and Risk Factors: A National Multicenter Analytical Study.

PURPOSE: The purpose of this study was to determine the point prevalence (PP) of general pressure injuries (PIs), hospital-acquired PIs, PI-related risk factors, and PI preventive interventions performed by nurses. DESIGN: Descriptive, multicenter, prospective, analytical study. SUBJECTS AND SETTING: The sample comprised 5088 patients cared for in 13 hospitals in 12 geographic regions of Turkey. Data were collected between November 5, 2018, and July 17, 2019. METHODS: The study was carried out in 2 stages. First, nurses who collected data were trained in the diagnosis of PI, risk assessment, staging, and prevalence studies, and informed about the purpose and methods of the study, including data collection. Second, nurses and researchers who had received training related to data collection for this study conducted a PP study for PIs in their inpatient clinics using the ASSIST II method. The PI Prevalence Study Tool and the Braden Scale for Predicting Pressure Sore Risk were also used during data collection. RESULTS: The PP of general PIs was 9.5%; the prevalence of PIs with hospitalization in intensive care units was 43.2%; medical device-related pressure injuries prevalence was 10.7%. We found that 65.1% of the PIs were acquired after hospital admission. CONCLUSIONS: Similarities exist between PI prevalence in Turkey and reported PI prevalence rates worldwide. However, the prevalence of nosocomial PIs related to intensive care units and the prevalence of all nosocomial injuries were higher than rates previously reported. Based on results, there is a need to develop strategies to reduce the prevalence of nosocomial PIs.

Effectiveness of training in increasing awareness about managing pressure injuries in emergency departments.

INTRODUCTION: Emergency room conditions and the characteristics of the patients followed up pose a risk for pressure injury. AIM: This study was conducted as a pilot study to assess the effectiveness of a training program in increasing the awareness of healthcare professionals working in an emergency department about how to manage pressure injuries. METHODS: The study was a prospective, pre-test post-test intervention study without a control group. The study included 595 patients who were hospitalized in the emergency room for more than two hours and voluntarily agreed to participate, as well as 11 physicians and 17 nurses working in the emergency department between 15 April and 19 June 2019 2019. It was carried out in three stages. In the first stage, the 30-day pressure injury incidence rate in the emergency department was evaluated using the "Emergency Department Patients Information and Pressure Injury Assessment Form" and "The Braden Scale for Predicting Pressure Injury Risk". In the second stage, the healthcare professionals were given training about pressure injuries. The knowledge levels of healthcare professionals before and after the training were evaluated using "The Descriptive Characteristics Form for Emergency Department Personnel (doctors and nurses)" and "The Questionnaire for Identifying and Preventing Pressure Injury". In the third stage, the 30-day pressure injury incidence rate in the was re-evaluated after the training using the same two scales as before. The SPSS 25 package program was used to evaluate the data in terms of frequency, percentage, mean and standard deviation, and the Mann-Whitney U Test for independent groups, the t-test, the correlated sample t-test, the Wilcoxon Signed Rank test, Pearson Chi-square test, Yates Chi-square test and Fisher's Exact Chi-square test were also used. RESULTS: The mean knowledge test score of the healthcare professionals working in the emergency department was determined as X¯±SD = 53.71 ± 14.70 before the training and X¯±SD = 58.57 ± 11.83 after the training. The average score on the prevention dimension of the Questionnaire for Identifying and Preventing Pressure Injury was found to be statistically significantly higher than before the training (p < 0.05). The pressure injury incidence in the emergency department was 12.5% before the training and 8.8% afterwards. CONCLUSION: It was observed that the knowledge of healthcare professionals about pressure injury was insufficient and that training given on this topic both increased their knowledge and decreased the incidence of pressure injury. However, the difference was not statistically significant. Training about pressure injuries is important for preventing pressure injury, identifying the injury early, treating the injury appropriately and increasing the awareness of healthcare professionals.

Impact of tailored training about pressure injuries on nurses' knowledge levels and pressure injury point prevalence: The case of Turkey.

AIM: This study was conducted to determine the impact of tailored training provided to nurses for preventing pressure injuries (PIs) on nurses' knowledge levels and the PI point prevalence (PP). MATERIALS AND METHODS: This interventional study was carried out in a university hospital with a bed capacity of 1114 in an urban center in Turkey. Ethics committee approval (28.06.2018/31) and institutional permission were obtained for the study, in addition to the nurses' written, informed consent. The study was completed in three stages. In the first stage an initial PP study was conducted in the clinics with the participation of the nurses and the members of the research team (n = 422 patients). In the second stage the knowledge levels of 194 nurses were measured before training was given on following-up and preventing PIs. The nurses then participated in the tailored training and their knowledge levels were re-measured afterwards. All the nurses were given individual advice related to the prevention of PIs for 30 days after they had completed the training. In the third stage a second PP study was conducted four months after the first PP study (n = 454 patients). The data were collected using the Pressure Injury Prevalence Form, the Braden Pressure Ulcer Risk Assessment Tool and the Knowledge Level Measurement Form. Descriptive values, the paired samples t-test, Pearson's chi-squared test and Fisher's Exact test were used to evaluate the data. RESULTS: The nurses' pretest mean knowledge score was 55.36% ± 14.40 and their posttest mean score was 69.92% ± 9.73. The difference between these scores was statistically significant (p < 0.05). The study found no significant difference between the first PP ratio and the second PP ratio (p > 0.05), and the nurses were better able to evaluate skin and PIs after the training. CONCLUSION: The study determined that the tailored training given to the nurses increased their knowledge; however, it had no impact on the PP after four months. It is recommended that any training programs using this model be continued and that PP studies of institutions be conducted annually.

Significant neuropsychiatric symptoms: three mucopolysaccharidosis type IIIB cases, two of whom were siblings with a novel NAGLU gene mutation.

Mucopolysaccharidosis (MPS) type IIIB patients present with marked neurodevelopmental and neuropsychiatric problems and not with typical MPS symptoms such as coarse facial features, organomegaly, or short body height, especially at the first presentation. We present three pediatric cases, two of which are sisters with novel NAGLU gene mutations, to emphasize that diagnosis of MPS type IIIB should be remembered in patients presenting with neurodevelopmental and neuropsychiatric problems such as delayed speech, autistic-like symptoms, severe behavioral and sleep problems, motor deterioration or idiopathic intellectual disability with or without refractory epilepsy, especially if there is aconsanguineous marriage.

Paralog Studies Augment Gene Discovery: DDX and DHX Genes.

Members of a paralogous gene family in which variation in one gene is known to cause disease are eight times more likely to also be associated with human disease. Recent studies have elucidated DHX30 and DDX3X as genes for which pathogenic variant alleles are involved in neurodevelopmental disorders. We hypothesized that variants in paralogous genes encoding members of the DExD/H-box RNA helicase superfamily might also underlie developmental delay and/or intellectual disability (DD and/or ID) disease phenotypes. Here we describe 15 unrelated individuals who have DD and/or ID, central nervous system (CNS) dysfunction, vertebral anomalies, and dysmorphic features and were found to have probably damaging variants in DExD/H-box RNA helicase genes. In addition, these individuals exhibit a variety of other tissue and organ system involvement including ocular, outer ear, hearing, cardiac, and kidney tissues. Five individuals with homozygous (one), compound-heterozygous (two), or de novo (two) missense variants in DHX37 were identified by exome sequencing. We identified ten total individuals with missense variants in three other DDX/DHX paralogs: DHX16 (four individuals), DDX54 (three individuals), and DHX34 (three individuals). Most identified variants are rare, predicted to be damaging, and occur at conserved amino acid residues. Taken together, these 15 individuals implicate the DExD/H-box helicases in both dominantly and recessively inherited neurodevelopmental phenotypes and highlight the potential for more than one disease mechanism underlying these disorders.

Function in unaffected arms of children with obstetric brachial plexus palsy.

OBJECTIVE: The objective is to compare the fine and gross motor function of unaffected arms of children with obstetric brachial plexus palsy (OBBP) with typically developing children's dominant upper extremities. METHODS: Fifty-three patients with OBBP and fifty-one typically developing children between the age of 4 and 13 were included in the study. For gross motor function evaluation in the upper extremity box-block test (BBT), for fine motor skill nine-hole peg (9HP) test was used. For grasp and pinch strength measurements, a Jamar dynamometer is used. RESULTS: The patient group performed significantly worse in 9HP and BBT tests. When further divided into age groups, 4-8 age patient group performed significantly worse in 9HP and BBT tests, while there were no differences in children in the 9-13 age group. CONCLUSIONS: The fine and gross motor functions of the unaffected arms of children with OBPP are significantly worse in children between the ages of four and eight but this deficit improves with age, and possibly with ongoing therapy.

Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry.

OBJECTIVE: To determine frequency of fragile X associated premature ovarian insufficiency (FXPOI) among Turkish premutation carriers. STUDY DESIGN: FMR1 premutation is the single most common genetic cause of POI (FXPOI). Fragile X Registry at Hacettepe University has been reviewed for the frequency of FXPOI among female premutation carriers. Since 1991 when FMR1 testing was available, 760 individuals from 243 families have been registered. Actual data on menstrual status of female premutation carriers were gathered and analysed. RESULTS: Among 314 premutation-bearing females in the cohort, 268 could be reached for an update of their menstrual history; 107 adults were 40 or younger and 156 were older than 40 years of age, whereas the remaining 5 patients were prepubertal. Among 263 postpubertal females with premutations, 90 women stopped menstruating before or at 40 years of age (premature ovarian failure - POF), constituting 34.2% of our cohort. Additionally, one carrier of a gray zone allele experienced FXPOI. History of twinning was present once in 18 women (5.7%) and twice in two women (0.6%), one of the latter interestingly bearing a full-mutation. CONCLUSIONS: FXPOI rates in the present cohort are higher than those reported in other populations. Higher FXPOI rates in Turkish premutation carriers might be a reflection of younger mean menopause age and higher POI rates in otherwise healthy Turkish women. Since POI is much more frequent among premutation carriers than in general population, testing for CGG repeat expansions in FMR1 should be included in the work-up.

Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member.

BACKGROUND: Niemann-Pick disease Type C (NP-C) is a rare, autosomal recessive lysosomal storage disorder caused by mutations in NPC1 or NPC2 genes. Diagnosis of NP-C can be challenging and is frequently delayed. Identifying mutations in individuals with NP-C and their relatives enables genetic counseling and prenatal diagnosis and may support earlier diagnosis. Here we report findings from a prospective cohort study in Turkey, using targeted genetic screening of the families of NP-C probands with homozygous NPC1 or NPC2 mutations. METHODS: Probands were selected from a Turkish National Registration Database. Probands had confirmed diagnosis based on NPC1 or NPC2 mutations, with clear indication for consanguineous, homozygous inheritance. Family members were identified from interviews and pedigree analysis. Genetic analysis was performed on DNA from peripheral blood samples from all subjects. RESULTS: Four probands and 510 individuals from the four families were included. In these four families, the overall NPC1 or NPC2 heterozygous mutation frequency was 22.7%. A novel mutation was identified in NPC1 (p.T375P; c.1123A>C). A previously described NPC2 mutation (p.E118X; c.352G>T) was also observed in two families from different regions of Turkey. We identified two new patients with NP-C from two families. CONCLUSIONS: This is the largest screening study conducted to date in Turkey in the families of patients with NP-C with homozygous inheritance. We have reported heterozygote frequencies, identified a novel mutation, and detected new patients with NP-C. These findings will aid our understanding of NP-C and may lead to improved recognition and more timely diagnosis.

Microdeletion of chromosome 1q21.3 in fraternal twins is associated with mental retardation, microcephaly, and epilepsy.

Reported here are twins, both of whom have a 1q21.3 microdeletion and who exhibit key features common to previously reported cases such as microcephaly and developmental delay. However, some clinical findings and deleted genes differed from those in previously reported cases. The karyotype was normal 46, XX for both of the twins. Array comparative genomic hybridization (CGH) identified a 2.6 Mb deletion on chromosome 1q21.3 (chr1: 153,514,121-156,171,335 bp) in case 1 and a 1.6 Mb deletion on chromosome 1q21.3 (chr1: 154,748,365-156,358,923 bp) in case 2. The deleted region includes DPM3, MUC1, GBA, PKLR, RIT1, and LAMTOR2 in both siblings. To the extent known, this is the second report of a 1q21.3 microdeletion in a family with mental retardation, developmental delay, seizures, and some dysmorphic features, thus expanding the phenotypic spectrum.

European registration process for Clinical Laboratory Geneticists in genetic healthcare.

Tremendous progress in genetics and genomics led to a wide range of healthcare providers, genetic tests, and more patients who can benefit from these developments. To guarantee and improve the quality of genetic testing, a unified European-based registration for individuals qualified in biomedicine was realized. Therefore a Europe-wide recognition of the profession 'European registered Clinical Laboratory Geneticist (ErCLG)' based on a syllabus of core competences was established which allows for harmonization in professional education. The 'European Board of Medical Genetics division - Clinical Laboratory Geneticist' provides now since 3 years the possibility to register as an ErCLG. Applicants may be from all European countries and since this year also from outside of Europe. Five subtitles reflect the exact specialty of each ErCLG, who can reregister every 5 years. A previously not possible statistics based on ~300 individuals from 19 countries as holders of an ErCLG title provides interesting insights into the professionals working in human genetics. It could be substantiated that there are around twice as many females than males and that a PhD title was achieved by 80% of registered ErCLGs. Also most ErCLGs are still trained as generalists (66%), followed by such ErCLGs with focus on molecular genetics (23%); the remaining are concentrated either on clinical (6%), tumor (4%) or biochemical genetics (1%). In conclusion, besides MDs and genetic counselors/nurses an EU-wide recognition system for Clinical Laboratory Geneticist has been established, which strengthens the status of specialists working in human genetic diagnostics in Europe and worldwide.

Body Image Perceptions of Persons With a Stoma and Their Partners: A Descriptive, Cross-sectional Study.

The body image perceptions of persons with a stoma and their partners are rarely examined and have yet to be evaluated in a Turkish sample. Using convenience sampling methods, a descriptive, cross-sectional study was conducted among individuals receiving treatment at the authors' stomatherapy unit between March 1, 2012 and May 31, 2012 to assess the effect of the stoma on self-image and partner perception. Eligible participants had to be >18 years of age, married, and with an abdominal stoma (colostomy, urostomy, or ileostomy) for at least 2 months. Data were obtained through separate (patient or partner), face-to-face, 30-minute to 45-minute interviews using the appropriate questionnaire. Questionnaire items assessed demographic variables and patient/partner feelings toward the ostomate's body using the Body Cathexis Scale (BCS) and author-developed questionnaires comprising statements eliciting individual responses (agree, disagree, undecided) regarding their feelings toward the stoma. Data were tabulated and analyzed using percentile distributions, and Mann Whitney U and Kruskal Wallis H tests were performed (Bonferroni correction was applied). Sixty (60) patients (25 women, 35 men, mean age 56.01 ± 10.1 years; 25 with an ileostomy, 30 with a colostomy, 5 with an ileostomy) participated, along with their 60 heterosexual partners (mean age 54.56 ± 10.25 years) married a mean of 33.06 ± 11.03 years. Mean patient BCS score was 133.15 ± 20.58 (range 40--low perception--to 200--high perception). Mean BCS score of patients whose partner helped in stoma care was significantly higher (136.04) than those whose partners did not (120.27) (P = 0.033). Patients who consulted their partners' opinions on stoma creation and participation in care had significantly higher BCS scores (P <0.05), and BCS scores of patients whose partners thought the stoma had a negative effect on their relationship were significantly lower (P = 0.040); patients' perceptions toward their bodies were parallel to their partners'. Mean BCS score of patients experiencing physical and psychosocial problems was significantly lower than those of patients who did not experience such problems. The results of this study show a number of factors, including involving patient partners before surgery, affect body perception of persons following stoma surgery.

Etiological yield of SNP microarrays in idiopathic intellectual disability.

Intellectual disability (ID) has a prevalence of 3% and is classified according to its severity. An underlying etiology cannot be determined in 75-80% in mild ID, and in 20-50% of severe ID. After it has been shown that copy number variations involving short DNA segments may cause ID, genome-wide SNP microarrays are being used as a tool for detecting submicroscopic copy number changes and uniparental disomy. This study was performed to investigate the presence of copy number changes in patients with ID of unidentified etiology. Affymetrix(®) 6.0 SNP microarray platform was used for analysis of 100 patients and their healthy parents, and data were evaluated using various databases and literature. Etiological diagnoses were made in 12 patients (12%). Homozygous deletion in NRXN1 gene and duplication in IL1RAPL1 gene were detected for the first time. Two separate patients had deletions in FOXP2 and UBE2A genes, respectively, for which only few patients have recently been reported. Interstitial and subtelomeric copy number changes were described in 6 patients, in whom routine cytogenetic tools revealed normal results. In one patient uniparental disomy type of Angelman syndrome was diagnosed. SNP microarrays constitute a screening test able to detect very small genomic changes, with a high etiological yield even in patients already evaluated using traditional cytogenetic tools, offer analysis for uniparental disomy and homozygosity, and thereby are helpful in finding novel disease-causing genes: for these reasons they should be considered as a first-tier genetic screening test in the evaluation of patients with ID and autism.

Jervell and Lange-Nielsen syndrome with homozygous missense mutation of the KCNQ1 gene.

Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive cardioauditory ion channel disorder characterized by congenital bilateral sensorineural deafness and long QT interval. JLNS is a ventricular repolarization abnormality and is caused by mutations in the KCNQ1 or KCNE1 gene. It has a high mortality rate in childhood due to ventricular tachyarrhythmias, episodes of torsade de pointes which may cause syncope or sudden cardiac death. Here, we present a 4.5-year-old female patient who had a history of syncope and congenital sensorineural deafness. She had a cochlear implant operation at 15 months of age and received an implantable cardioverter defibrillator (ICD) at 3 years of age because of recurrent syncope attacks. Five months after cochlear implant placement, she could say her first words and is now able to speak. With ß-blocker therapy and ICD, she has remained syncope-free for a year. On the current admission, the family visited the genetics department to learn about the possibility of prenatal diagnosis of sensorineural deafness, as the mother was 9 weeks pregnant. A diagnosis of JLNS was established for the first time, and a homozygous missense mutation in the KCNQ1 gene (c.128 G>A, p.R243H) was detected. Heterozygous mutations of KCNQ1 were identified in both parents, thereby allowing future prenatal diagnoses. The family obtained prenatal diagnosis for the current pregnancy, and fetal KCNQ1 analysis revealed the same homozygous mutation. The pregnancy was terminated at the 12th week of gestation. The case presented here is the third molecularly confirmed Turkish JLNS case; it emphasizes the importance of timely genetic diagnosis, which allows appropriate genetic counseling and prenatal diagnosis, as well as proper management of the condition.

Complex small supernumerary marker chromosomes - an update.

BACKGROUND: Complex small supernumerary marker chromosomes (sSMC) constitute one of the smallest subgroups of sSMC in general. Complex sSMC consist of chromosomal material derived from more than one chromosome; the best known representative of this group is the derivative chromosome 22 {der(22)t(11;22)} or Emanuel syndrome. In 2008 we speculated that complex sSMC could be part of an underestimated entity. RESULTS: Here, the overall yet reported 412 complex sSMC are summarized. They constitute 8.4% of all yet in detail characterized sSMC cases. The majority of the complex sSMC is contributed by patients suffering from Emanuel syndrome (82%). Besides there are a der(22)t(8;22)(q24.1;q11.1) and a der(13)t(13;18)(q11;p11.21) or der(21)t(18;21)(p11.21;q11.1) = der(13 or 21)t(13 or 21;18) syndrome. The latter two represent another 2.6% and 2.2% of the complex sSMC-cases, respectively. The large majority of complex sSMC has a centric minute shape and derives from an acrocentric chromosome. Nonetheless, complex sSMC can involve material from each chromosomal origin. Most complex sSMC are inherited form a balanced translocation in one parent and are non-mosaic. Interestingly, there are hot spots for the chromosomal breakpoints involved. CONCLUSIONS: Complex sSMC need to be considered in diagnostics, especially in non-mosaic, centric minute shaped sSMC. As yet three complex-sSMC-associated syndromes are identified. As recurrent breakpoints in the complex sSMC were characterized, it is to be expected that more syndromes are identified in this subgroup of sSMC. Overall, complex sSMC emphasize once more the importance of detailed cytogenetic analyses, especially in patients with idiopathic mental retardation.

A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy.

GRID2 is a member of the ionotropic glutamate receptor family of excitatory neurotransmitter receptors. GRID2 encodes the glutamate receptor subunit delta-2, selectively expressed in cerebellar Purkinje cells. The phenotype associated with loss of GRID2 function was described only in mice until now, characterized by different degrees of cerebellar ataxia and usually relatively mild abnormalities of the cerebellum. This work describes for the first time the human phenotype associated with homozygous partial deletion of GRID2 in 3 children in one large consanguineous Turkish family. Homozygous deletion of exons 3 and 4 of GRID2 (94 153 589-94 298 037 bp) in the proband and similarly affected cousins, and heterozygous deletions in parental DNA were shown using Affymetrix® 6.0 single-nucleotide polymorphism array, confirmed by real-time polymerase chain reaction. The phenotype includes nystagmus, hypotonia with marked developmental delay in gross motor skills in early infancy followed by a static encephalopathy course with development of cerebellar ataxia, oculomotor apraxia, and pyramidal tract involvement.

Association of LOXL1 gene polymorphisms with exfoliation syndrome/glaucoma and primary open angle glaucoma in a Turkish population.

PURPOSE: To investigate the association of lysyl oxidase like 1 (LOXL1) variants with exfoliation syndrome (XFS), exfoliation glaucoma (XFG), and primary open angle glaucoma (POAG) in a Turkish population. METHODS: Two LOXL1 single nucleotide polymorphisms (SNPs), rs1048661 (R141L) and rs3825942 (G153D), were analyzed in 300 Turkish patients (100 patients with XFS, 100 patients with XFG, 100 patients with POAG) and 100 control subjects. RESULTS: The T allele of rs1048661 was underrepresented in patients with XFS (odds ratio [OR]=0.334, 95% confidence interval [CI]: 0.198-0.564, p=2.54 × 10(-5)) and XFG (OR=0.366, 95% CI: 0.219-0.611, p=8.56 × 10(-5)) compared to the control subjects. None of the patients with XFS or XFG had the A allele of rs3825942, whereas 16% of the control subjects had that variant (OR=0.025, 95% CI: 0.003-0.188, p=3.69×10(-9)). No association was observed between the SNPs studied and POAG. By using logistic regression analysis, the effect of rs1048661 remained significant (p=8.45 × 10(-8)) after controlling for the effect of rs3825942, whereas rs3825942 was not significant with conditioning on rs1048661. Female gender was protective against the disease controlling with the effect of the two SNPs (OR=0.527, 95% CI: 0.358-0.776, p=0.001). CONCLUSIONS: The findings of the current study indicate that in a logistic regression analysis model the T allele of rs1048661 is the most important risk-modifying factor for the development of XFS and XFG. Our results also confirm in a Turkish population the findings of previous reports describing the association between LOXL1 polymorphisms and XFS/XFG but not with POAG. The allele and genotype distribution in this cohort appear to be similar to those of Caucasians.

Two siblings with similar phenotypes: one of them had ring 20 chromosome.

We present the electroclinical features and cytogenetic findings of 2 siblings with the ring 20 chromosome (r(20)) phenotype, one of which had r(20) mosaicism. A history of epilepsy or learning problems should be determined in family members, although these relatives had no ring formation in chromosome 20. Whether the clinical features result from possible deletions or ring formation is discussed.

WAGR syndrome with tetralogy of Fallot and hydrocephalus.

Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation (WAGR) syndrome occurs sporadically due to deletion of chromosome 11p13. A variety of other abnormalities involving different systems have been reported in patients with WAGR syndrome. We report on a patient with WAGR syndrome with accompanying tetralogy of Fallot and hydrocephalus.

A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype.

Chromosome 2q37 microdeletion syndrome is a rare disorder characterized by mild-moderate psychomotor and growth retardation, autistic-like behavior, Albright hereditary osteodystrophy-like metacarpal/metatarsal shortening, and facial characteristics. We here report on a patient with 2q37 microdeletion presenting with learning difficulty, hyperactivity and attention deficit. Physical examination revealed psychomotor and growth retardation, facial dysmorphism and brachydactyly, suggestive of Albright hereditary osteodystrophy-like phenotype. Laboratory evaluation revealed 46, XX.ish subtel(2q)(D2S447-) confirming 2q37 microdeletion. Chromosome 2q37 microdeletion syndrome should be considered in the differential diagnosis of patients presenting with psychomotor and growth retardation and an Albright hereditary osteodystrophy-like phenotype, especially in the presence of brachydactyly, even if the characteristic facial features are missing.