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40 Possible Causes for Conical-Shaped Teeth, Multiple Congenital Anomalies, No Pubic Hair

  • XXXXY Syndrome

    The most remarkable skeletal and dental anomalies were the absence of 9 permanent teeth, taurodontism of the permanent first molars, and the conical shape of permanent maxillary[ncbi.nlm.nih.gov] There was also an increase in pubic hair growth, testicular volume and penis size, weight loss, homeostatic model assessment index reduction and the normalisation of vitamin[edmcasereports.com] A 5-month-old boy had failure to thrive and multiple congenital anomalies including microcephaly, facial dysmorphism (hypertelorism, megacornea, cleft palate, and micrognathia[ncbi.nlm.nih.gov]

  • Oculo-Osteo-Cutaneous Syndrome

    ; widely spaced Enamel hypoplasia; peg-shaped; widely spaced Hypodontia; microdontia; abnormally shaped Hypodontia; diminutive upper lateral incisors; prepubertal periodontitis[docksci.com] Symptoms via clinical synopsis from OMIM: 57 Head And Neck Ears: low-set ears Growth Height: short stature Skin Nails Hair Hair: absent axillary hair absent pubic hair thin[malacards.org] This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.com]

  • Hidrotic Ectodermal Dysplasia

    Figure 3: Teeth are reduced in number and are conical in shape. Figure 4: Panoramic radiograph shows eight erupted teeth of primary dentition and eight tooth buds. 3.[hindawi.com] : absent eyebrows short, thin, sparse, pale scalp hair short, sparse eyelashes sparse axillary and pubic hair Clinical features from OMIM: 601375 Human phenotypes related[malacards.org] congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.[mendelian.co]

  • Ectodermal Dysplasia

    […] with ectodermal dysplasia (ED) include complete or partial hypodontia, anodontia, loss of vertical dimension of occlusion, protuberant lips, malformed and widely spaced conical-shaped[ncbi.nlm.nih.gov] After puberty, male patterns of hair growth (e.g., moustache and beard) can be normal, while in other cases, facial and pubic hair growth may be sparse.[rarediseases.org] Winter and Michael Baraitser, A catalogue of multiple congenital anomaly syndromes, Multiple Congenital Anomalies, 10.1007/978-1-4899-3109-2_1, (1-672), (1991). T.[oadoi.org]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    teeth, and facial abnormalities. anteroposterior facial dysplasia defective development resulting in abnormal anteroposterior relations of the maxilla and mandible to each[medical-dictionary.thefreedictionary.com] However, the hairs did not show any structural alterations (at the light microscopy level). Axillary and pubic hair was scanty.[docslide.com.br] congenital anomalies (MCA) AEC syndrome Multiple congenital anomalies (MCA) Alstrom syndrome Multiple congenital anomalies (MCA) Angelman syndrome Multiple congenital anomalies[genomediagnosticsnijmegen.nl]

  • Congenital Ankyloblepharon

    AEC Syndrome is a Rare Genetic Condition Characterized by Teeth Missing (hypodontia) Conical shaped teeth Sweat Glands A reduced ability to sweat (hypohidrosis) Skin Fragile[nfed.org] The excess growth of hair occurs in areas of the skin with the exception of androgen-dependent hair of the pubic area, face, and axillary regions.[findzebra.com] This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.es]

  • Non-Eruption of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome

    shape of anterior teeth and occasional presence of neonatal teeth.[casereports.bmj.com] , and genital size and pubic hair in boys, is the basis for assigning a Tanner stage to an adolescent.[musculoskeletalkey.com] This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.com]

  • Trichodysplasia - Xeroderma Syndrome

    ; widely spaced Enamel hypoplasia; peg-shaped; widely spaced Hypodontia; microdontia; abnormally shaped Hypodontia; diminutive upper lateral incisors; prepubertal periodontitis[docksci.com] […] shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows[orpha.net] This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.es]

  • Intestinal Pseudo-Obstruction - Patent Ductus Arteriosus - Natal Teeth

    Natal teeth are described as conical or normal in size and shape, yellowish, with hypoplastic enamel and dentin, and poor or absent root development37,100,123.[vdocuments.mx] Axillary/pubic hair is sparse and primary amenorrhea is present. The incomplete form may represent undervirilized infertile men.[pongpdf.com] Management is supportive. 3 INTRODUCTION Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome that is mainly characterized by a particular face, broad thumbs[docplayer.net]

  • Odonto-Onycho-Dermal Dysplasia

    In the upper jaw, there are two permanent central incisors and one permanent premolar with conical crown shape (upper arrows).[nature.com] Sparse axillary/pubic hair ? ? ? ? /Abnormal hair pattern / / / Diffuse follicular hyperkeratosis Dry skin ? ? ?[myslide.es] This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.de]

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