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European Journal of Paediatric Dentistry Sep 2023Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterised by facial dysmorphism, genital and limb anomalies as well as disproportionate acromelic short...
BACKGROUND
Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterised by facial dysmorphism, genital and limb anomalies as well as disproportionate acromelic short stature. Clinical diagnosis is based on physical examination and the presence of the most characteristic clinical signs. The diagnosis can be finally confirmed by molecular tests, which identify mutations in the FGD1 gene.
CASE REPORT
The report outlines the orthodontic treatment of a 6-year-old male patient, who was diagnosed with AAS syndrome. He presents all facial and oral clinical signs of this syndrome. The extent of maxillary hypoplasia and early dental crowding are so significant that immediate expansion therapy is required.
CONCLUSION
Dental management of patients with AAS syndrome represents a challenge for paediatric dentists. The key to improving a patient's aesthetic, functional and psychological condition is making the correct orthodontic decision.
Topics: Male; Child; Humans; Guanine Nucleotide Exchange Factors; Mutation; Dwarfism; Genitalia, Male
PubMed: 37337880
DOI: 10.23804/ejpd.2023.1953 -
Saudi Journal of Anaesthesia 2021Aarskog Scott syndrome is a rare genetic disorder characterised by facial, limb and genital abnormalities first described in 1970. Its evolving nature in terms of...
Aarskog Scott syndrome is a rare genetic disorder characterised by facial, limb and genital abnormalities first described in 1970. Its evolving nature in terms of associated features and increased surgical interventions necessitates anaesthesiologists to have a thorough knowledge about this syndrome for a better preparedness. Although multiple case reports have been published in literature since its discovery, no case report regarding its anaesthetic considerations and challenges have been described in literature till now. We report challenges encountered and successful anaesthetic management of a seven-year-old girl with Aarskog Scott Syndrome posted for a corneal repair in view of traumatic corneal perforation.
PubMed: 34188646
DOI: 10.4103/sja.sja_1047_20 -
Genetics Research 2021Aarskog-Scott syndrome is a genetically and clinically heterogeneous rare condition caused by a pathogenic variant in the FGD1 gene. A systematic review was carried out... (Review)
Review
Aarskog-Scott syndrome is a genetically and clinically heterogeneous rare condition caused by a pathogenic variant in the FGD1 gene. A systematic review was carried out to analyse the prevalence of clinical manifestations found in patients, as well as to evaluate the genotype-phenotype correlation. The results obtained show that clinical findings of the craniofacial, orthopaedic, and genitourinary tract correspond to the highest scores of prevalence. The authors reclassified the primary, secondary, and additional criteria based on their prevalence. Furthermore, it was possible to observe, in accordance with previous reports, that the reported phenotypes do not present a direct relation to the underlying genotypes.
Topics: Dwarfism; Face; Genetic Association Studies; Genetic Diseases, X-Linked; Genitalia, Male; Guanine Nucleotide Exchange Factors; Hand Deformities, Congenital; Heart Defects, Congenital; Humans; Male; Mutation; Prevalence
PubMed: 33762894
DOI: 10.1155/2021/6652957 -
American Journal of Medical Genetics.... Jul 2022Aarskog-Scott syndrome (AAS) is a developmental disorder, caused by disease-causing hemizygous variants in the FGD1 gene. AAS is characterized by dysmorphic features,...
Aarskog-Scott syndrome (AAS) is a developmental disorder, caused by disease-causing hemizygous variants in the FGD1 gene. AAS is characterized by dysmorphic features, genital malformation, skeletal anomalies, and in some cases, intellectual disability and behavioral difficulties. Myopathy has only been reported once in two affected siblings diagnosed with AAS. Only few adult cases have been reported. This article reports four adults with AAS (three male cases and one female carrier) from two unrelated Danish families, all males presented with variable features suggestive of myopathy. All four carried novel hemizygous pathogenic variants in the FGD1 gene; one family presented with the c.2266dup, p.Cys756Leufs*19 variant while the c.527dup; p.Leu177Thrfs*40 variant was detected in the second family. All males had some mild myopathic symptoms or histological abnormalities. Case 1 had the most severe myopathic phenotype with prominent proximal muscular fatigue and exercise intolerance. In addition, he had multiple deletions of mtDNA and low respiratory chain activity. His younger nephew, case 3, had difficulties doing sports in his youth and had a mildly abnormal muscle biopsy and relatively decreased mitochondrial enzyme activity. The singular case from family 2 (case 4), had a mildly myopathic muscle biopsy, but no overt myopathic symptoms. Our findings suggest that myopathic involvement should be considered in AAS.
Topics: Adult; Denmark; Dwarfism; Face; Female; Genetic Diseases, X-Linked; Genitalia, Male; Guanine Nucleotide Exchange Factors; Hand Deformities, Congenital; Heart Defects, Congenital; Humans; Male; Syndrome
PubMed: 35388608
DOI: 10.1002/ajmg.a.62753 -
European Journal of Pediatrics May 2024Patients with Aarskog-Scott syndrome (AAS) have short stature, facial anomalies, skeletal deformities, and genitourinary malformations. FYVE, RhoGEF, and PH... (Review)
Review
Patients with Aarskog-Scott syndrome (AAS) have short stature, facial anomalies, skeletal deformities, and genitourinary malformations. FYVE, RhoGEF, and PH domain-containing 1 (FGD1) is the only known causative gene of AAS. However, the diagnosis of AAS remains difficult, and specific treatments are still absent. Patients suspected with AAS were recruited, and clinical information was collected. Genetic testing and functional analysis were carried out for the diagnosis. By literature review, we summarized the clinical and genetic characteristics of FGD1-related AAS and analyzed the genotype-phenotype correlation. Five patients were recruited, and four novel FGD1 variants were identified. The diagnosis of AAS was confirmed by genetic analysis and functional study. Three patients treated with growth hormone showed improved heights during the follow-up period. By literature review, clinical features of AAS patients with FGD1 variants were summarized. Regarding FGD1 variations, substitutions were the most common form, and among them, missense variants were the most frequent. Moreover, we found patients with drastic variants showed higher incidences of foot and genitourinary malformations. Missense variants in DH domain were related to a lower incidence of cryptorchidism. Conclusion: We reported four novel pathogenic FGD1 variations in AAS patients and confirmed the efficacy and safety of growth hormone treatment in FGD1-related AAS patients with growth hormone deficiency. Additionally, our literature review suggested the crucial role of DH domain in FGD1 function. What is Known: • Aarskog-Scott syndrome is a rare genetic disease, and the only known cause is the variant in FGD1 gene. The typical clinical manifestations of AAS include facial, skeletal, and urogenital deformities and short stature. What is New: • We reported four novel FGD1 variants and reported the treatment of growth hormone in FGD1-related AAS patients. Our genotype-phenotype correlation analysis suggested the crucial role of DH domain in FGD1 function.
Topics: Child; Child, Preschool; Female; Humans; Male; Abnormalities, Multiple; Dwarfism; Face; Genetic Association Studies; Genetic Diseases, X-Linked; Genitalia, Male; Guanine Nucleotide Exchange Factors; Hand Deformities, Congenital; Heart Defects, Congenital; Phenotype; Scalp Dermatoses; Urogenital Abnormalities
PubMed: 38411716
DOI: 10.1007/s00431-024-05484-9 -
Journal of Cardiac Surgery Sep 2022We present the case of a 69 years old man affected by Aarskog-Scott syndrome. He came to our attention for an aneurysm of the aortic root, with almost moderate aortic...
We present the case of a 69 years old man affected by Aarskog-Scott syndrome. He came to our attention for an aneurysm of the aortic root, with almost moderate aortic regurgitation; moderate mitral regurgitation was discovered during preoperative assessment. We performed a modified Bentall's procedure and mitral valve repair. A patent foramen ovale was closed. Aarskog-Scott syndrome is a complex developmental disorder, characterized by X-linked recessive hereditariness short stature, craniofacial abnormalities, hyperextension of the proximal interphalangeal joints, and genital malformations. Diagnosis is still a challenge, in light of various clinical pictures and features in common with other syndromes (i.e., Noonan, SHORT, and Robinow syndromes). It has been longly debated if cardiac surveillance is needed among the affected patients; it should be probably undertaken, in view of the higher incidence of congenital heart disease. Moreover, the presence of extremely flexible joints suggests the coexistence of a connective tissue disorder.
Topics: Aged; Aortic Aneurysm, Thoracic; Aortic Valve Insufficiency; Dwarfism; Face; Genetic Diseases, X-Linked; Genitalia, Male; Hand Deformities, Congenital; Heart Defects, Congenital; Humans; Male; Syndrome
PubMed: 35703394
DOI: 10.1111/jocs.16684 -
Child's Nervous System : ChNS :... Feb 2022Cervical kyphosis is rare in the pediatric population. It may be syndromic or acquired secondary to laminectomy, neoplasia, or trauma. Regardless, this should be avoided... (Review)
Review
OBJECTIVE
Cervical kyphosis is rare in the pediatric population. It may be syndromic or acquired secondary to laminectomy, neoplasia, or trauma. Regardless, this should be avoided to prevent progressive spinal deformity and neurological deficit. Long-term follow-up is needed to evaluate fusion status, spine growth, potential instability, and neurological function.
METHODS AND MATERIALS
A retrospective review of 27 children (6 months to 16 years) with cervical kyphotic deformity was performed and limited to the MRI era until 2008, to provide a long-term follow-up after which complex instrumentation was available. There were 27 patients, 19 syndromic (average age 5.36 years), and 8 non-syndromic (average age 14 years). Syndromes encountered were spondyloepiphyseal dysplasia (SED) 4, spondylometaphyseal dysplasia 1, unnamed collagen abnormality syndrome 1, osteogenesis imperfecta (OI) 2, Aarskog syndrome 1, Weaver syndrome 1, Larsen syndrome 1, multiple cervical level disconnection syndrome 1, Klippel-Feil 3, congenital absence of C2 pars 4. Non-syndromic cases; 2 with neurofibromatosis (NF1) and prevertebral tumors, fibromatosis 1, spontaneous kyphosis 1, and postlaminectomy 4. Factors considered were age, pathology, flexibility on cervical spine dynamic films, reduction with traction and spinal cord compression. Patients with flexible kyphosis underwent dorsal fixation. Children with non-flexible ventral compression/kyphosis had crown halo traction. Irreducible kyphosis had ventral decompression and fusion as well as dorsal fusion. Eleven of 19 syndromic children with flexible and reducible kyphosis underwent dorsal fixation alone. Four of 8 non-syndromic (2 NF1) needed ventral and dorsal approaches.
RESULTS
The preoperative deformity (global and local Cobb angles) as well as neurological status improved. Growth during follow-up was not impaired, and we did not encounter instability or junctional kyphosis. The only complications were seen in syndromic patients. One patient with SED showed delayed cantilever bending of the ventral fusion mass requiring reoperation, and 1 other OI child had left C5 and C6 nerve root weakness after anterior C4 and C5 decompression which resolved over 1 year. One child with SED developed cervicothoracic junction scoliosis 18 years later after thoracic scoliosis surgery.
CONCLUSIONS
Syndromic pathology presented early with neurological dysfunction and 24% had rigid kyphosis. An attempt at traction/reduction was successful as in Tables 1 and 2. The majority exhibited long-term improvement in kyphosis and function. A treatment algorithm and literature review is presented. Table 1 Motor function of the modified Japanese Orthopedic Association (JOA) score in children [24, 37] Score Upper extremity •Unable to move hands or feed oneself 0 •Can move hands; unable to eat with spoon 1 •Able to eat with spoon with difficulty 2 •Able to use spoon; clumsy with buttoning 3 •Healthy; no dysfunction 4 Lower extremity •Unable to sit or stand 0 •Unable to walk without cane or walker 1 •Walks independently on level floor but needs support on stairs 2 •Capable to walking, clumsy 3 •No dysfunction 4 Table 2 Pediatric cervical kyphosis-preoperative evaluations Case ID, year presented Age Sex Diagnosis Presentation Imaging Apex Cobb angle degree Reducibility Preop traction Syndromic #1 2003 4 years M SED Progressive quadriparesis Bladder incontinence Severe C2-4 kyphosis with cord compression C3-4 85° No No #2 2001 3 years M SED Progressive quadriparesis C2-3 kyphosis. No dorsal C2. Buckled cord C2-3 25° No No Recurrent weakness after recovery 2 years later Kyphosis at fusion site C2-3 33° No No #3 1997 13 years M SED Neck pain. Hand weakness. Thoracic scoliosis C1-3 kyphosis Os odontoideum C2-3 30° Yes No #4 2006 6 years F SED Tingling in hands Bladder incontinence Deformed C2 body and odontoid C1-2 instability C2-3 27° Yes No #5 1997 4 years M SMD Quadriparesis. Previous C2-3 kyphosis with O-C3 dorsal fusion elsewhere Fixed C1-2 dislocation. C2-3 kyphosis. O-C4 fusion C2 35° Partial Yes 4 days #6 2007 13 years F Syndromic collagen abnormality Neck pain. Leg length discrepancies. T-L scoliosis. Quadriparesis Bilateral C2 and partial C3 spondylolysis C-T levoscoliosis C2-3 35° Partial Yes 4 days #7 2003 14 years F Osteogenesis imperfecta (OI) Only able to use right upper extremity C3-5 kyphosis. Canal diameter 4 mm at C4 C4 25° No No #8 1989 3 years F OI - Bruck's syndrome Quadriparesis age 9 months. Had C1-C3 posterior decompression and fusion elsewhere Progressive kyphosis Worse weakness Bend in fusion C1-2 40° No No #9 1996 11 years M Aarskog syndrome Neck pain with limited neck motion Cervical myelopathy Psychomotor delay C4-5 spondylolysis C5-6 kyphosis C5 30° No Yes 3 days #10 1989 3½ years F Weaver syndrome Quadriparesis age 2 years. Elsewhere C1-C3 dorsal rib fusion and wires Fusion failure C2-3 subluxation Cord compression C2-3 3° Yes Yes 1 day #11 1986 11 years F Larsen syndrome Neck pain in extension Quadriparesis C2-3 kyphosis. Deformed bodies C2-5 Os odontoideum C1-2 instability C2-3 28° Yes Yes 1 day #12 1996 5 years M Multilevel cervical disconnect syndrome Horner pupil on right Small right arm Quadriparesis C4, C5 vertebral bodies behind C5 C5 body in canal Left vertebral artery in C5 body C4-5 35° No No #13 1985 3 years F Klippel-Feil Neck pain. Weak hands Atlas assimilation C3-4 kyphosis No posterior bony arches C3, C4 C3-4 40° Yes No #14 1994 3 years F Klippel-Feil Unable to sit. Floppy. Quadriparesis C2-3 kyphosis No posterior arches C2-3 and L4 C2-3 45° Yes No #15 1993 11 months F Tuberous sclerosis Spondylolysis C2 Salam seizures Quadriparesis No pars C2 C2-3 kyphosis C2-3 30° Yes No #16 1998 2 years M C2 spondylolysis Quadriparesis, arms worse than legs C2 spondylolysis C2-3 kyphosis C2-3 35° Yes No #17 1998 6 months M C2 spondylolysis Failure to thrive Apneic spells Weak in arms after endoscopy C2-3 kyphosis No C2 lamina Cord compression C3-4 on MRI C2-3 45° Yes No #18 1990 4 years F C2 spondylolysis Developmental delay Quadriparesis C2 spondylolysis C2-3 kyphosis C3 45° Yes No #19 1994 4 years F Klippel-Feil No posterior C2 Torticollis age 6 mo Quadriparesis C2-3 kyphosis No posterior arch C2 Fused C3-4 bodies C2-3 45° Yes No Non-syndromic #20 1996 15 years M NF1. Ventral prevertebral plexiform neurofibroma Neck pain Weak arms Cervical myelopathy C4-5 kyphosis Cord draped over C4-5 Enhanced prevertebral tumor C4-5 60° Partial Yes 4 days #21 1996 6 years M NF1 Age 6 mo had C1-3 laminectomies elsewhere Progressive kyphosis Quadriparesis C3-5 plexiform neurofibromas C2-4 kyphosis C3-4 45° No No #22 1993 11 years M "Fibromatosis" Neck pain Gag ↓ Right hemiparesis C2 body and odontoid curved dorsally C2-3 kyphosis C2 40° No Yes 3 days #23 2007 13 F Mid-cervical kyphosis Neck pain Unable to move neck C3-4 kyphosis C3-4 45° Yes Halo vest elsewhere 6 weeks Repeat traction on referral #24 1998 12 years M Chiari I Syringohydromyelia Difficulty swallowing Quadriparesis Previous posterior fossa and C1-3 decompression Basilar invagination C3-4 kyphosis C3-4 50° Yes Halo traction 3 days #25 1994 16 years M Chiari I. SHM Difficult speech Quadriparesis Previous posterior fossa and C1-4 laminectomies C3-4 kyphosis Basilar invagination C3-4 55° Yes Halo traction 3 days #26 2002 11 years M Chordoma C3-5 Initial quadriparesis improved after posterior decompression then worse Dorsal and lateral tumor C3-4 C3-4 20° Yes Traction 3 days #27 2006 13 years M C4 lamina Aneurysmal bone cyst Neck and shoulder pain C4 laminectomy for tumor resection Worse 4 months later C4-5 kyphosis C3-4 40° Yes No Table 3 Pediatric cervical kyphosis-postoperative evaluations Case ID Diagnosis Treatment-operation Complication PO orthosis F/U time Fusion status Preop Cobb Postop Cobb Preop JOA Postop JOA Comments Syndromic #1 SED Crown halo traction 1. Median mandibular glossotomy. Resection C2-3 bodies with rib graft fusion 2. Dorsal O-C3 rib graft fusion None Halo vest 3 months Soft collar 3 months 8 years Complete anterior and posterior fusion 85° 10° 2 8 Complete neurological recovery #2 SED Crown halo traction 1. Median mandibular glossotomy. C2-4 corpectomies. C2-5 anterior rib graft fusion Recurrent weakness 2 years s later Halo vest 3 months 2 years Fused 25° 20° 4 5 T. scoliosis. Cardiac abnormalities. Walking then quadriparesis Redo ventral resection and C1-4 iliac bone graft Worsening quadriparesis Minerva brace 1 year 18 years Fused 33° 15° 3 5 Much improved in 6 months #3 SED Crown halo traction Dorsal O-C4 fusion with loop and rib graft None Miami J collar 3 months 10 years Fused 30° 13° 4 7 Works in bookstore #4 SED Crown halo traction Dorsal O-C3 fusion with loop and rib graft 4 years later developed C-T scoliosis after T. scoliosis surgery Miami J collar 3 months 14 years Fused 27° 5° 5 7 C-T scoliosis developed after thoracic scoliosis correction #5 SMD Crown halo traction Transoral C2 odontoid resection None Minerva brace 6 months 20 years No from preop status 35° 10° 1 4 In wheelchair. Works as programmer #6 Collagen abnormality Crown halo traction C2-5 ACDF C2-5 plate with C3-4 lag screws Junctional kyphosis 7 years later after scoliosis correction Miami J collar 6 weeks 12 years Fused 36° 5° 4 7 Abnormal vertebral arteries. Thoracic outlet syndrome May-Thurner syndrome #7 OI Crown halo traction C3-5 corpectomies C2-6 Orion plate with iliac crest graft None Soft collar 4 years Fused 25° 30° 1 5 Restrictive lung disease. Multiple fractures Expired #8 OI - Bruck syndrome 1. Redo C1-2 dorsal rib graft fusion No change Molded Minerva brace 4 years Fused 40° 35° 3 4 Increased weakness age 7 2. 11 years age anterior C3-7 decompression and plate C3-7 Worsening left deltoid and biceps function Molded Minerva brace 30 years Fused 52° 34° 3 5 Lives alone. Wheelchair. Computer technologist Uses hands well #9 Aarskog syndrome Crown halo traction C2-6 anterior cervical fusion with iliac crest graft None Molded Minerva brace 20 years Fused 30° 14° 4 7 Works on a farm. No myelopathy. Syndrome in family #10 Weaver syndrome Crown halo traction Redo C1-4 dorsal rib graft fusion None Miami J collar 2 years Fused 3° 10° 2 5 Neuroblastoma age 3 months. Chemotherapy Stable #11 Larsen syndrome Crown halo traction O-C5 dorsal fusion None Halo vest 6 weeks Miami J 3 months 6 years Fused 28° 10° 3 7 Doing well #12 Multilevel cervical disconnect syndrome Crown halo traction C5 corpectomy C4-6 iliac bone fusion anteriorly Dorsal C4-6 fusion None Halo vest 3 months 5 years Fused 35° 5° 3 7 Persistent Horner pupil #13 Klippel-Feil Crown halo traction C2-6 posterior rib graft fusion None Halo vest 3 months 19 years Fused 40° 12° 3 7 Hearing loss Genitourinary abnormalities Sprengel's deformity #14 Klippel-Feil Crown halo C2-5 dorsal rib graft fusion None Halo vest 3 months 35 years Fused 45° 10° 1 6 Hearing loss Genitourinary abnormalities #15 Tuberous sclerosis Spondylolysis C2 C1-4 dorsal interlaminar rib fusion None Halo vest 3 months 6 years Fused 30° 5° 1 6 Psychomotor delay #16 C2 spondylolysis C1-4 dorsal interlaminar fusion None Halo vest 3 months 4 years Fused 35° 10° 2 6 Recovered full function in one year #17 C2 spondylolysis Tracheostomy Molded cervicothoracic brace None Mold brace 4 years 6 years Formed C2 posterior arches 45° 20° 1 3 Reformed C2 at 4 years on CT Parents did not wish surgery #18 C2 spondylolysis Intraoperative traction C1-3 dorsal rib graft fusion None Neck brace 4 months 8 years Fused 45° 12° 2 5 Developed C2 posterior elements #19 Klippel-Feil Intraoperative traction O-C4 fusion with rib graft None Molded brace 6 months 1 years Fused O-C2 dorsally 45° 16° 1 4 Able to sit and use hands Non-syndromic #20 NF1 Resection of ventral tumor C3-6 C4-5 corpectomies; C4-5 iliac graft; C3-7 Orion plate None Halo vest 6 weeks 14 years Fused 60° 15° 3 7 Recovered in 6 weeks. Works on a farm #21 NF1 Intraoperative traction Resect prevertebral tumor C2-5 kyphectomies; C2-6 anterior fusion iliac crest None Halo vest 3 months 2 years Fused 45° 20° 3 5 Initial C1-3 decompression done elsewhere #22 Fibromatosis 1. Transoral C2 decompression 2. Dorsal O-C3 fusion with loop None Brace 3 months 12 years Fused 40° 12° 4 6 Age 2 years had neck mass resected. Diagnosis "fibromatosis" #23 Mid-cervical kyphosis Traction C2-5 lateral mass fusion with screws, rods and rib grafts Worse after removal of initial traction Brace 3 months 8 years Fused 45° 15° 7 8 Doing well #24 Chiari I SHM Intraoperative traction O-C5 rib graft fusion None Halo vest 3 months 21 years Fused 50° 7° 2 6 Facets atrophied C2, C3 at surgery #25 Chiari I SHM Intraoperative traction O-C5 dorsal fusion with loop and rib None Miami J brace 4 months 22 years Fused 55° 10° 3 6 Facets atrophied C2-4 at surgery #26 Chordoma C3-4 1. Dorsal lateral C3-6 fusion 2. C2-5 anterior fusion with iliac bone None Miami J brace 6 months 18 years Fused 20° 12° 5 8 Weak in hands after initial surgery elsewhere #27 ABC tumor C4 Anterior C3-5 fusion with plate and bone None Miami J brace 4 weeks 12 years Fused 40° 15° 5 8 No recurrence SED spondyloepiphyseal dysplasia, SMD spondylometaphyseal dysplasia, JOA Japanese Orthopedic Association, MRI magnetic resonance imaging, SHM syringohydromyelia, NF1 neurofibromatosis type 1, f/u follow up, OI osteogenesis imperfecta, CT computed tomography, JK junctional kyphosis.
Topics: Adolescent; Cervical Vertebrae; Child; Child, Preschool; Humans; Infant; Kyphosis; Magnetic Resonance Imaging; Spinal Fusion; Treatment Outcome
PubMed: 34806157
DOI: 10.1007/s00381-021-05409-z -
The Cleft Palate-craniofacial Journal :... May 2024Aarskog-Scott syndrome (AAS), also known as facio-digito-genital syndrome, is a rare heterogenous syndrome characterized by facial dysmorphism, brachydactyly, and...
Aarskog-Scott syndrome (AAS), also known as facio-digito-genital syndrome, is a rare heterogenous syndrome characterized by facial dysmorphism, brachydactyly, and genetic abnormalities. Although severe craniofacial abnormalities have been reported in AAS, little is known about speech and resonance issues in AAS. Specifically, published data to date have only indicated reports of hypernasality associated with a cleft palate in AAS. This case report provides clinical and anatomic information surrounding hypernasal speech in the absence of an overt cleft palate in a patient with AAS.
Topics: Humans; Cleft Palate; Face; Speech; Dwarfism; Velopharyngeal Insufficiency; Genitalia, Male; Hand Deformities, Congenital; Heart Defects, Congenital; Genetic Diseases, X-Linked
PubMed: 36475306
DOI: 10.1177/10556656221141235 -
Clinical and Experimental Dermatology Feb 2022
Topics: Adult; Antibodies, Monoclonal, Humanized; Dermatitis, Atopic; Dwarfism; Face; Genetic Diseases, X-Linked; Genitalia, Male; Hand Deformities, Congenital; Heart Defects, Congenital; Humans; Interleukin Inhibitors; Interleukin-4 Receptor alpha Subunit; Male
PubMed: 34482546
DOI: 10.1111/ced.14924 -
BMJ Case Reports Jun 2020Aarskog-Scott syndrome (AAS), also known as facio-genital dysplasia or faciodigitogenital syndrome, is a rare genetic disorder clinically characterised by facial, limb...
Aarskog-Scott syndrome (AAS), also known as facio-genital dysplasia or faciodigitogenital syndrome, is a rare genetic disorder clinically characterised by facial, limb and genitalanomalies. Although also autosomal dominance and recessive patterns have been reported, up to now, only an X linked form associated to mutations of the gene has been recognised as causative for this syndrome.In this case report, we describe a large Italian family in which three members across three generations show classical features of the syndrome. The youngest patient, the proband, and his mother were both molecularly studied and characterised for the not previously reported variant c.1828C>T (p. Arg610*) in the gene but with the classic phenotype of AAS. Additionally, both the proband and his mother present a 2.5 Mb 16p13.11-p12.3 microduplication, a genetic variant still unclear for the phenotypic consequences: the co-occurrence of the two rare conditions is discussed for the possible clinical significance.
Topics: Abnormalities, Multiple; Adult; Biological Variation, Population; Child Development; Diagnosis, Differential; Dwarfism; Face; Female; Genes, Duplicate; Genetic Diseases, X-Linked; Genitalia, Male; Guanine Nucleotide Exchange Factors; Hand Deformities, Congenital; Heart Defects, Congenital; Humans; Infant; Male; Mutation; Patient Care Management; Pedigree; Psychosocial Support Systems
PubMed: 32606125
DOI: 10.1136/bcr-2020-235183